Bibliography of the current world literature This bibliography is compiled by geneticists and developmental biologists from the journals listed at the end of this publication. It is based on literature entered into our database between 1st February 1991 and 31st January 1992 (articles are generally added to the database about two and a half months after publication). In addition, the bibliography contains every paper annotated by reviewers; these references were obtained from a variety of bibliographic databases and published between the beginning of the review period and the time of going to press. The bibliography has been grouped into topics that relate to the reviews in this issue. • Papers considered by the reviewers to be of special interest. • • Papers considered by the reviewers to be of outstanding interest. The number in square brackets following a selected paper, e.g. [7], refers to its number in the annotated references of the corresponding review.

Contents Mammalian genetics Mapping and Iocational assignments of human genes Molecular genetics of chromosome 21

505

Mapping in mammalian species, other than man Genome mapping approaches X-linked disorders

513 516 519

Chromosomal abnormalities Genomic imprinting

521 523

512

Molecular basis of disease

523

The olfactory multigene family

537

Artificial chromosomes

537

Molecular genetics of the X and Y chromosomes

537

Mammalian development

5313

Population genetics

539

Applications of PCR

539

Mammalian genetics Mapping and Iocational assignments of human genes Related reviews: The human genetic map (pp 387-392)1"; CEPH maps (pp 393-399) AD~tS hiD, KELLEYJM, GOCAYNEJD, DUB~ICKM, POLYgLEROPOUDDSMH, XIAOH. ~P.mL CIL WU & OLDE B. MOP.NO RF: Complemetary DNA Sequencins Expressed Sequence Tags a n d Human Genome Project. Scimzce 1991, 253:1651-1656. ALAKAPEEM, NEVPuNLINNAH, NUd.I M, JALKANENM, SCHRODER J: Localization of Gene for Human Syndecan, an integral Membrane Proteoglycan and a Matrix Receptor, to Chromosome-2. Somat Cell Mol Genet 1990, 16:501-505. ALBIGW, KARDALINOUE, DRABENTB, ZIMMERA. DOENECKED: IsolatiOn and Characterization o f Two Human H1 ltistone Genes Within Clusters of Core HIstone Genes. Gmtomlcs 1991, 10:940-948, AL£XANDROVIA. ~.L~HKOVA"IT),AKOPIANTA. MEDVEDEVU. KLC6ELEVLL MITKEVICHSP, YUROVYB: ChromosomeSpecific Alpha-Satellites - TWO Distinct Families on Human Chromosome-18. Gcnomics 1991, 11:15-23. AUTAbOT, KRUSETA. FORSlUSH, EPJK&~ONAW, DE LA CHAPEILEA: Localization of the Aland Island Eye Dises.~ Locus to the P e r i c e n t r o m e r i c Region of the X Chromosome by Linkage Analysis. Ant./ f l u m C~?tlet 1991, 48:31-38. ALLDERDICEPW, GARDNERHAR. GAILrflRAD. LOCKRIDGE O. LADUBN, MC.m.PINEPJ: The Cloned Butyrylcholinesterase (BCHE) Gene Maps to a Single Chromosome Site, 3¢!26. GeTlomica 1991, 11:452-~1. ALLENBS, ST~INJL STerNGS, OSTRmlH: Single-Copy Flanking Sequences in Human Historic Gene Clusters Map to C h r o m o s o m e . 1 a n d Chromosome-6. Genondcs 1991, 10:486-488. ANDERYx~ONA. DAHLBACKB, HANSONC, HILIARPA. LEVANG, SZPIRERJ, SZPIP.ERC: Genes for C4b-Binding Protein A-Chalns and Beta-Chains (C4BPA and C4BPB) are Located on Chromosome-I, Band-lQ32, in Humans and on Chromosome-13 in Rats. Somat Cell Mol Genet 1990, 16:493-500.

ASHERJH JR, MORRELLIL FRIEDMANTB: Waardenburg Syndrome (WS): the Analysis o f a Single Family w i t h a WSI Mutation Showing Linkage to RFLP Markcrs on Human Chromosome 2q. A m J Hum Genet 1991, 48:43-52. ASHG HUMANGENOMECOMMITTEE:ASHG Human Genome Committee Report: the Human Genome Project: Implications for Human G~netics. A m J H u m Genet 1991, 49:687--691. ASSUMG, FtNKT, KLETrC, LENGLB, SCHANBACHERM, UHLS, WOHR G: A New Muitisequencc Family in Human. Genomic~s 1991, 11:397-409. A.STRIN[~-I, WARNERCA, YOO HW, CeOODFELLOWPJ, TSAISF, D.ESNtCK RJ: Regional Assignment o f thc Human Uroporphyrtnogen-rrg Synthase (tYROS) Gene to Chromosome lOq25.2->q26.3. H u m Genet 1991, 87:18--22. BARNSW: Hybridization Methods for DNA Sequencing. Genomi~* 1991, 11:294-301. BALEAE, N~CHELLAL GONZALEZFJ, MCBRIDEOW: Localization o f CYI~F1 by Multipoint Linkage Analysts and Pulsed-Field Gel FAectrophoresis. Genomics 1991, 10:284-286. BARINAGAM: Will DNA Chip Speed Genome Initiative. Science 1991, 253:1489. BARI.~ITAC, BATT1CANEN, RAGUSARM, LEUBER, PESCHLEC, ROMANOV: Subchromosoma] Loe'allTation of Two Human Cytoketatin Genes (KRT4 and KRT15) by Insitu Hybridization. Cylogenet Cell C~.tlet 1990, 54:148-150. BARLETYAC, DRUCKT, LAFORGIAS, CAIABRE'ITAB, DP,ABKINH, pATTEKSOND, CROCECM, HUEBNERK: Chromusome Locations o f the MYB Related Genes, AMYB and B M Y B . Cancer R~* 1991, 51:3821-3824. BARTONJ'~V, HARTIM, pAT1EILSOND: Mapping of a Locus Correcting l a c k of PhosphortbosylaminoImldazole Carboxylase Activity in Chinese Ham. ster Ovary Ceil Ade-D Mutants to Human Chromusome-4. Genomics 1991, 9:314-321. BELKAC. GREGERV, ZABELB, HOR.WHEMI~B: NO Evidence for Sequences Structurally Related to the RB1 Gene In the Human Genome. PhLm Genet 1991, 86:.101-403. BELL~IY RJ, INGLEHFARNCF, JALILIIK, JEFFRI~S AJ, BIIA'ITACHARYASS: Increased Band Sharing in DNA

(~) Current Biology Ltd ISSN 0959-437X

Fingerprints of an Inbred Human Population. H u m GeT#et 1991, 87:3-il-347 BE~IAN P, BOILEAUC, LOUXN, PASTIERD, MASLIAHJ, COULONM, NIGOU M, RAGABA, GUIMARDJ, RUIDAVETS JB, BChNAITI-PEU~C, FRUCHARTJC, DOUSTE-BLAZYP. BEREZJATG, JUN1ENC: Extended H a p l o ~ mad Linkage Disequilibrium Between II Markers at the APOAI.C3-A4 Gene O u s t e r on Chromosome H. A m J H u m Genet 1991, 48:903--910. BENOITP. GROSSMS, FRACHETP, FRF.ZALJ, UT.~qG, BOUCHEIX C, CONG NV: Assignment o f the Human CD9 Gen¢ to C h r o m o s o m e - 1 2 (Region- PI3) b y use o f Human Specific DNA Probes. Hum Gene11991, 86:268-272. BERGERHEIMUSR. KUN]MIK, COLUN~VP, EKMANP: Deletion Mapping o f C h r o m o s o m e - 8 , Chromosome10, a n d Chromusome-16 in Human Prostatic Carcinoma. Genes CJJrom~onws C~ncer 1991. 3:215-220. BERUBED, P~LSSAGEE, ,MATIEAMG, MATTEIJF. GAGNER: Fine Mapping of the Long Arm o f Human C h r o m o s o m e - l l by lnsltu Hybridization Using Different Trmxslocations, Including the T ( I 1 22) of Ewing Sarcoma. Cytogenet Cell Genet 1990, 54:142-147. BERUBED, SERALINIGE, GAGNEIL HAMMONDGL: Lod-allT~tion of the H a m a n Sex HormoneBinding Globulin Gene (SHBG) to the Short Arm o f Chromosome-IV (17p12- > p13). Cytogmwt Cell Go'net 1990, 54:65-67. BISHOP DT, WESTm~OOKC: Report of the Committee. on-the-Genetlc-Coustltut Ion-of- Cliromosome-5. Cytogenet Cell Genet 1990, 55:111-117. BLANCHEH, ZOGHBIFIY,JABS EXv/,DEGOUYONB, ZUNECR. DAUSSETJ, CANNHM: A Centromere-Based Genetic Map o f the Short Arm o f Human Chromosome-6. Genomics 1991, 9:420-428. BOEHNKEM: Allele Frequency Estimation from Data ol3 Relatives. A m J H u m Genet 1991, 48:22-25. BONGC~MRUDLOFFE. NLgTERM. BETSHOL'['ZC, WANGJL. STENMANG, [-IUEBNERK, CROCECM, WESTERMARK B: Human Glial Flbrtilary Acidic Protein Complementary DNA Cloning, Chromosome Locallaation, a n d Messenger RNA Expression

505

506

Mammalian genetics Mapping and Iocational assignments of human genes in Human Glloma Cell Lines of Various Phenotypes. Cancer Res 1991, 51:1553-1560. BORROWJ, BLACKDM, GODDARDAD, YAGLEMK, FRISCHAUF AM, SOLOMONE: Construction a nd Regional Loe~ll~ation of Clones from a Notl Linking Library from Human Chromosome-17q. Genomics 1991, 10:477-480. BOTI~MACDK, BOI"IEMAbIJ, KET~RUNGRP, yOON HS, JANCO Rl~ PHILUPSJA, SOMMERSS: Why Does the Human Escmr-IX Gene have a G+ C Content of 40-Perrent. Am J Hum Genet 1991, 49:839-~50. BOTT~IACDK, KETTERLINGRP, I] S, YOONHS, PHILLIPSjA. SO~.~.tER SS: ML~eP.~ Mutations and Evolutionary Conservation of Amino A d d s - Evidence that Many of the Aminn Acids in Factor-IX Function as Spacer Elements. A m J Hum Genet 1991, 49:820-838. BOUFFLERSD, GODFREYD, RAM~ MJ, MLISKSRR.JOIINSON RT: Molecular Cloning of a Mammalian Gene Involved in the Fixation of UV.induced MutatiOns. Somol Cell Mol Genet 1990. 16:507-516. BOWCOCKAM, FARRERLA. HEBESTJM, BALEAE, CAVALLL~FOP~ [; A Contiguous Linkage Map of Chromosome13q With 39 DL~tinct Loci Separated nn Average by 5.1 Centimorgans. Genomics 1991, 11:517-5--'9. BOWCOCKAM, TAGGM4q"RT: Report o f the Committeeon-the JC~enetic-Constllution-o f- Chromosome-13. Cytogc.net Cell Gene11990, 55:177-182. BRANDRIFFB, GOPd3ON L TR&~KB: A New System for • H i g h - r e s o l u t i o n DNA Sequence Mapping in Interphase Pronuclei. Genomic., 1991, 10:75-82.

f54q. BRAy p, LICHTERp, THIESF~NH-J, WARDDC, DAW1DIn: Characterization and Mapping of Human Genes Encoding Zinc Finger Proteins. proc N a a A ~ d S c i U S A 1991, 88:9563-9567. BRETTp ETA/.: Chromosome Markers in T o u r e t t e ' s Syndrome [letter]. Lancet 1991. 337:184. BROOKJD, HARI£YHG, WATCHKW, RUNDLE~ SICILIKNOMJ, HARPERPS, SHAWOJ: Identification of New DNA Markers Close to the Myotonie Dystrophy Locus. J Med Genet 1991, 28:84-788. BROOKJD, KNIGHTSJt, ROBERTSSH. HARLhWltG, WAt.SHKV, RUNT)LES& FREYNEK. KOCH MC. EI~..WEtNND. WIERINGA B, SCHON~ D, SMEEa.XH, H.M~tNGHAMK, SICII~qO MJ. PALMERDK, MiUL~JS, WOLFCR. FONAI.~CHC, SHAWDJ: The Physical Map of Chromosome Arm 19q Some New Assignments, Confirmations a nd ReA s s e s s m e n t s . Hum Genet 1991, W7:65-72. BROWNELLE, LEE AS, PEKARSK, PRA~.q'CHEVAD. RUDDLE FH, BA't~;EYRM: GILal Flbrtllary Acid Protein, an Astrocytlc-Speclfic Marker, Maps to Human Chromosome-17. Genomic~g 1991, 10:1087-1089 BROX03X.%WEINDG, BHATTPN, GR&SL JACOBYRO: Chromosomal Locations and Gonadal Dependence of Genes that Mediate Resistance to Ectromella (Mousepox) Virus-Induced Mortality. J Viro/1991, 65:1946-1951. BRU~SG& D~COPOU NC: Report of the Comm|tteeon-the-Genetic-Constitution-of- Chromosome-1. Cytogenet Cell Genet 1990, 55:77-85. BUDARFML, MCDEP~MIDliE, SELLhNGERB. E&L~NUEI.BS: IsoLation and Regional Localization o f 35 Unique Anonymous DNA Markers for Human Chromosome 22. Genomic.~. 1991, 10:996-1002. BUETOWKH: Influence of Aberrant Observations on Hlgh-Resointion Linkage Analysis Outcomes. Am J Hum Genet 1991, 49:985-994. BUETOWKH, SHIANGR, YANGp, NAKAMURAY, LATHROP ~ GM, WHITEIL WASMKrrHJJ, WOOD S. BERDAHLLD. L~ENS NJ, ETA/_:A Detailed Multipolnt Map of Human Chromosome 4 Provides Evidence for Linkage Heterogeneity a nd Position-specific Recombination Rates, Am J Hum Genet 1991, 48:911-925. [5]. CACHONGONZALEZN~, DELHANTYJDA. BURNJ, TSIOUPRAK, DArnS MB, ATIW'OODJ, CHAPMANP: Linkage Analysis in Adennmatous Polyposis-Coll - t h e use o f Four Closely U n k e d DNA Probes in 20 UK Families. J Med Genet 1991, 2g~381-~085. CAIULOA. NICOUSS, BIANCHIP, ZUFFARDIO, BARDO~ B. ~HIO P, OTTOLENGHIS, C&MERINOG, GIGUONI B: Mapping the Gene Encoding the Human Erythroid Transcriptional Factor NFE1-GF1 to X p l l . 2 3 . Hum Genet 1991, 86:388-390. CANFIELDVA. OKAMOTOCT, CHOWD, DORFMANJ, GROS P, FORTEJG, LEVENSONPc Cloning of the H,K-ATPase Beta-Subunlt - Tissue.Specific Expression, Chromosomal Assignment, and Relationship to Na, K- ATPase Beta-Subunits. J Biol Ggem 1990, 265:19878-19884. CANNIZZAROl.A.SKOLN1KEY, MARGOUSB. CROCECM, SCHLESINGERJ, HUEBNERK: The Human Gene Encoding Phosphaddylinositol-3 Kinase

Associated P85alpha is at Chromosome Region 5q12-13. Cancer Re$1991, 51:~818-3820. CAREYG, WILUANLSONJ: Linkage Analysis of Quantitative Traits - Increased Power by Using Selected Samples. Am J Hum Get:el 1991, 49:786-796. CARNEYDF, HAXqLANDDL, NOACKO. ~ETSELP~ VIK DP, TACKBF: Structural Aspects o f th e Human C5Gene - i n t r o n / E x o n Organization, 5'-Flanldng Region Features, and Charaetertzatinn o f Two Truncated CDNA Clones. J Biol Cbem 199L 266:18786-18791. CHAKRAVARTIA: Information Content of th e Centre D'Etude Du Polymorphisme Humaln (CEPH) Family Structures for Linkage Studies. Hum Genet t991, 87:721-724. CILMIblLETp, NGUYENJ. WEt S, GAYn P~c Genetic Linkage Analysis and Homology Relationships of Genes Located on Human C h r o m n s o m e - l l q . Genomics 1991.10:608-617. CHEN EY, CHENGA. LEEA. KUANG\X,~,HILUERL GREENP, SCHLESSINGERD, CICCODICOL~/% DUF60 M: Sequence o f Human Glueose-6*Phosphate Dehydrogenase Cloned in Plasmids a n d a Yeast Artificial Chromosome. Genomic~ 1991, 10:792-800. tHEN LZ, [~OO~ISPC, APOSTOLOUS, [lAKER E, HOIAIAN K, L&NESA. N&'~CARROWJK. WltffMORESA, STALIJNGS RL HILDEBP.MNDCE, R I C ~ RI, SUTHERLANDGR, CAIRN DF: A Refined Physical Map of the Long Arm of Human Chromosome-16. Genomics 1991. 10:308-312. CItERIFZAHARB, MATI"EI biG, LEXtANKIMC, BMLLYP. CARI~RON JP, COUNY: Lo.mllT~tion of th e Human Rh Blood Group Gene Structure to Chromosome Region 1p34.3-1p36.1 by llLsitu Hybridization. Hum Genet 1991, 86:398-400. CIRJN K, NtACKAYN, WILLARDltF, ROBINSONBH: Isolation, Chazaeterizatlon and Chromosomal Localization of CDNA Clones for th e Elbeta-Subunli of the Pyruvate Dehydrogenase Complex. E u r J Biod~'m 19~, 194:587-592 CLAUKgIM, WATHEI~TMG, STA'IRERJ, ISLAMMQ. LEVANG. SZPIRERC, HUEZ GA: Human Thymostn-beta4/6-26 Geoe is Part of a Muhigene Family Composed of Seven Members Located on Seven Different Chromosomes. Genomi6$1991, 9:174-180 COLLIERIE, BRLINSGAP, GOLDBERGGI, GERHARDDS: On the Structure and Chromosome Location of the 72kDa And 92- KDa Human Type-IV Coilagenase Genes, Genomics 1991, 9:429~434. CONRNGSDE, ML!tlLFAI&ND, DIE'IXGW, DONLONT; Human Tryptophan Oxygenase Localized to 4q31 Possible Implications for Alcoholism and O t h e r Behavioral Disorders. Genomics 1991.9:301~308. COMINGSDE, MUHLEMAND, DtETZ.GW. DONLONT: Human Tryptophan Oxygenase Localized to 4q31 Possible Implications for Alcoholism and O th e r Behavioral Disorders. Genomics 1991, 9:301-308 CONG NV, AUBERTJP, GRO~ MS, PORCHETN, DEGANDP~ FRF2_~J: Assignment o f Humum T r a e h e o b r o n c h i a l Muein G e n e ( s ) to 11p15 and a T r a e h e o b r o n c h i a l Mucin-Reiated Sequence to Chromosome-13. Hum Genet 1990, 86:167-172. CONNEALLYPM: A First Step Toward a m o le c u la r Genetic Analysis of Amyotrophlc Lateral Sclerosis [Editorial]. N EnglJ Med 1991, 324:1430-1431. COTE.GB, GYFrOOtMOUJ: Twtrming and Mitotic Crossing-over - Some PossibilitieS and T h e i r Implications. Am J Hum Ge~wt 1991, 49:120-130 CO'fTER FE, IJIJJNGTOND, HAMPTONG, RIDDLEP, NASIPURI S, GIBBONSB, YOUNGBD: Gene Mapping by Mlcrodlssection and Enzymatic Amplification - Heterogeneity in Leukaemla Associated Brcakpoints on Claromosome-B. Genes CJ~romommc~ Cancer 1991, 3:8-15. COUILLINP, MOLLICONEP~ GRISAI~ MC, GIBAUDA. RAXqSEN, FEhNGOLDJ, ORIOLPc C h r o m o s o m e - l l q Localization of One of the T h r e e Expected Genes for th e Human Alpha-3-Fucosyhransferases, by Somatic Hybridization. Cytogenet Cell Genet 1991, 56:108-111. COULSONA. KOZONOY, LLrITERBACHB, SHOWNKEENR. @ SUI~TONJ, ~/ATEI~TONPc YACs and the ~ E l e g a n s Genome. Bioessa3* 1991, 13:413-417. [18']. COX DR, SttlMmU N: Report of th e Committee-on. t he43enetic-Constltutinn~of- Chromosome-21. Cytogenet Cell Genet 1990, 55:235-244. Cox DW, NAKAblURAY, GEDDEDAHLT: Report of the Committee-on-the-Genetie-Constltut Ion-ofChromosome-14. Clqogenet Cell Gene! 1990, 55:183-188. Cox RD, ~HP.AEH H: Genome Mapping - PCR Based Meiotic and Somatic Cell Hybrid Analysis. Btoe~a). 1991, 13:193-198. CRMG IW, MCBRIDEWO: Report of the Committee-onthe-Genetie-ConstituUon-of- Chromosome-12. Cytogenet Cell Genet 1990. 55:170-176.

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genetics Mapping in

mammalian species, other than man

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N e a r G e n e s f o r Estet-a.~.D a n d

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Mammalian genetics Genome mapping approaches Human Chromosome-13ql4-q21 and Mouse Chromosome.14. Genomics 1991, 9:461-465. SPENCERJA, SINCLAIRAH, WA~ON JM, GP.A',~JAbI: Genes o n the Short Arm of the Human X-Chromusome are not Shared with the Marsuplal.X. Genomic.~ 1991. 11:339-345. SPENCERJA. WATSONJM, GRAVESJAM: The X-Chromosome nf Marsupials Shares a Highly Conserved Region with Euthertans. Genomic.~ 1991, 9:598~"~}-t. SZABOA. DALMAUJ, MANLEYG, ROSENTELDM, X(/ONG E, HEN~ONJ, POSNERJB, FUIINEAUXHM: HoD, a Paraneoplastic EncephalomyelltLs Antigen, Contains RNA-Binding Domains and Is Homologous to Elav a nd Sex-Lethal. Cell 1991, 67:325-333. .q~.PIRF.RC, RW1EREM, ST.PIRE.RJ, HAN.~ONC. LEVANG, HENDYGN: Assignment of the Rat Parathyroid Hormone-Like Peptlde Gone (PTHLH) to Chromosome-4 - Evidence for Conserved Synteny Between Human Chromosome-12, Mouse Chromosome-6, and Rat Chromosome-4. C),logenet Cell Ge*wt 1991. 56:193-195 ST~IKERJ, SZPLRERC, RI~qEREM, HOIJART C, BAUM~N~NM, FEYGH, POU V, CORTF-gER, ISLAMMQ, LEVANG: The Interleukin-6-Dependent DNA-Binding pr ote in Gone (Transcription Factor-5 - TCFS) Maps to Human Chromosome-20 and Rat Chromosome3, the IL6-Receptor Locus (IL6R) to Human Chromosome-1 and Rat Chromosome-2, and the Rat EL6-Gene to Rat Chromosome-4. Genomica 1991, 10:539-546. SZt,IRErJ, S;'.PIREEC, RIXqEREM, LEVANG, NL~EN P. C,~SL~I&N.U. WIESER. DELUC~I IF: The Spl Transcription Factor Gene (SPI) and the 1,25Dihydroxyvitamin-D3 Receptor Geoe (VDR) are Colocalized on Human Chromosome Arm 12q and Rat Chromosome-7. Genomic.~ 1991, 11:168-173. TAGLEDA. GOODMANM, MILLERD~ Characterization of Chromosomes and Localization nf the RDNA Locus in the Aye-Aye (Daubentnnia. M~d~ga.seariensLs). Cytogena Cell Genet 1990, 54:43-i6 TATA F, STAN1ERP. XXtICKINGC, HALFORDS. KRKWERH, LENCII NJ. SC~mBt.ER PJ, I'I&',tSEN C, BtU~WN JC, WnJ.WmSON R. WAL'.AX~IGHTBJ: Cloning the Mouse Homolog of the Human Cystic Fibrosis T r a n s m e m b r a n e Conductance Regulator Gone. Genomics 1991, 10:301-307. TItOSt~S EE. LAUAS, KLMSU, OSBORNED. KAb-FRtlKOFFI.F: Variation in Resistance to Herpes Simplex Virus Type-1 of Oligodendrocytes Derived from Inbred Strains of Mice. J Gen tTro/1991, 72:2051-2057. THOM&SKS. MUSCIT~, NEUM:uN'NPE. CAPECCHI MPC S w a y i n g • ~ is a Mutant Allele of the proto-Oncogene W n t - l . Cell 1991, 67:969-976. [43]. THON~iENPD, FREDIIOI~tM. CHRISTENSENK, SCHWERINM: Assignment of the Porcine Growth H o r m o o e Gone to Chromosome-12. Cyfogenet Cell Gone, 1990, 54:92-94. THREADGILL DS, WO,~L~,CKJE: Mapping HSA10 Homologous ]Loci i n Cattle. C),togenet Cell Genel 1991, 57:123-126. TODDJ/L AI'D,tAN ~I~,CO'RNALLRJ, GtlOSH S. HALLJRS. HEAENE O O CM, KNIGHTAM, LOVEJM, MCALEERMA. PRINSJ 0, RODRIGUESN, Lt~THEOPM, PRF~gSENA. DELARATO NH, PETEILSONLB. WICKERLS: Genetic Analysis of Autoimmune Type 1 Diabetes MeUItus in Mice. Nature 1991, 351:542-546. [46]. T'/JMAGIORGISG. AD~tSON MC, KO~LM~CA, MOSCHONAS NI~ Chromosomal Mapping o f Glutamate Dehydrogenase Gone Sequences to Mouse Chromosome-7 and Chromosome-14. Gcqlomic~ 1991, 10:83-88. VOGT P, KEILI~ KOHLERM. LENGAUERC, [EWE D. LE~E G; Selection o f DNA S~quences from Interval-6 of the Human Y- Chromosome with Homology to a Y-Chromosomal Fertility Gone Sequence of Dfosophlla HydeL H u m Genel 1991, 86:341-349. WALTErC, GUENETJ-L SIMOND, DEtrP3CH U, JOSTESB, • GOUIDINGMD, PLACHOVD. BALLINGPCGRU~ P: Pax: a Murine Multigene Family of Paired B o x . COnta|nln~ Genes. Genomi~¢ 1991, 11:424--434. [19]. WALTERRB, ~ J, SVENSSONRT, KAI2~IANKD, MORIZOT DC, NAL~ RS: Linkage Asalgnment of a DNA Sequeoce (ERCC2LI) Homologous to a Human DNA Repair Gene in Xlphophm-os Fishes I m p l i c a t i o n s for the Evolutionary Derivation of Human Chromosome-19. Genomi~* 1991, 10:1083-1086. WALTHERC, GUENETJL SI.MON D, DEUTSCHU, JOSWEs B, GOULDINGMID,PLACHOVD, BAILINGR. GRUSSP: Pax - a Murine Multigene Family o f Paired BOXC o o t a l n l n g Genes. Ge~tomics 1991, 11:424--434. WATMgM~ET, SAK~Y, btlYAWAKIS, SHIMLZUA. KOtWAIO. OHNO K: A Molecular Genetic Linkage Map o f

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Genome mapping approaches Related review: Genome mapping: cDNA approaches (pp 412-416) AI)AMSMD, DUBN1CKM, KERLAVAGEAR. MORENOR, KELLEY o o JM, U~rERBACKTP~ NAGLEJW, I"IELOS C, VENTERJC: Sequence Identification of 2375 Human Brain Genes. Nature 1992, 355:632-634 [29]. AIBERTSONDG, SHERRINGTONP, VAUDINM: Mapping Nonisotoplcally Labeled DNA Probes to Human Chromosome Bands by Confocal Microscopy. Gertomics 199I, 10:143-15@ AMENDOLAR, I'IAENDEL S, WEIER FlU, PALLA%qCINIMG: T r m ~ g e n e Integration in Hair FoUIcles and Peripheral Blood Ceils Measured by invttro DNA Amplification and Fluorescence Insitu Hybridization. DNA Cell Bio11991, 10:311-317 ?uN&NDR, OGIU.qEDJ, BLU'LERR, I~h~" JH, FINNIEARRS, PO'X~.LLSJ, SMflI~JC, MAmOU~mAF: A Yeast ArtificLal Chromosome Contlg Encompassing the Cystic Fibrosis Locus. Genomics 1991, 9:12q--130 AREN.~-fORFHP. KANDpALPP, B&SKARANN. PARIMOOS. TANAKAY. KITAJIMAS, YASUKOCHIY. WEL%~LMqSM: Coostructlno and Characterization of a NntlBsuE Linking Library from the Human XChromosome. Genomics 1991, 11:115-123. ARKA33AR. lANDERES, TAVARES, XXrATEP~bSuNMS: Genomlc • Mapping by Anchoring Random Clones: a Mathematical AnalysLs. Genomics 1991, 1 1 : ~ 2 7 . [10l. ASI.~NIDISC, DE JONG PJ: Coincidence Cloning of Alu ~ Products. Proc N a t / A c a d Sct U S A 199 l, ~'.6765-6769, BABUVR, WIKTORA: A Fluorescence Inalm Hybridization T e c h n iq u e for Retrospective Cytogenetic Analysis. Cytogenet Cell Genet 1991, 57:16-17. BALDINIA, WARDDC: insltu Hybridization Banding of Human Chromosomes w i t h Alu- PCR Products

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i n Y e a s t A.rtlficlal

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Mammaliangenetics Genome mapping approaches LEFORTA, P~6SAGEE, LtBERTF. SZPlRERJ, VA.¢&~TG, MAI-t'EI MG: localization of Human Calcyphosine Gene (CAPS) to the P13.3 Region o f Chromosome-19 by inaltu Hybridization. Cytogenet Cell Genet 1990, 54:154-155. LEN~AUERC, ECRELT~ WEITItA, ENDUCIIN. PONEUES N, LICHTERP, GREUUCHKO, CREMERT: Painting of Defined Chromosomal Regions by Insitu Suppression Hybridization o f Libraries from Laser-MIcrodissected Chromosomes. Cytogenet Cell Genet 1991, 56:27-30. LENNONGG, LEHRACHH: Hybridization Analyses o f DO Arrayed CDNA Libraries. Trends Genet 1991, 7:314-317 [24]. LOVETTM, KEREJ. HINTONl.bl: Dli~ct Selection: a Method for the Isolation of CDNAs Encoded by Large Genomlc Regions. Proc N a d Acad Sci U S ,4 1991, ~:9628-9632. I£1DENAP. SEN~ISC, DECM~OSF, VEIAZQUEZM. FE~h'q~NDF.ZPIQUERKSJ: Visualization of R-BandLg in Human Metaphase Chromosomes by the Restriction Endonuclease Msel. ~.yfo~t.tlef Cell Genet 1991, 57:82-86. MACDONALDG, CHU ML COX DP~ Fine Structure PhysiGtl Mapping of the Regioo of Mouse Chromosome10 Homologous to Human Chromosome-21. Genomic* 1991.11:317-323. MACMURRAYAJ, WEAX~RA` SHIN H-S, I.~qDER ES: An Automated Method for DNA Preparation from Thousands of YAC Clones. Nucleic Aci(L~ Rc~. 1991, 19:385-390. MENT)EZMJ, KbMaHOLZS, BROX~NS~I'EINBH, GEMMRJ.ILM: Rapid Soreening of a YAC Library by PulsedField Gel Southern Blot Analysis of Pooled YAC Clones. Genomic.s 1991, 10:661~65. MOMBAE.RTSp, CLARKEAR, HOOPERML TONEGAWA5: Creation of a Large Genomic Deletion at the T-CeU Antigen Receptor Beta-Subunit Locus in Mouse Embryonic Stem Ceils by Gene Targeting. I~OC Nat/ACad Sci U S A 1991, ~:3084-3087. MONACOAP, tAM VMS, ZEHFSI'NERG, LENNONGG, DOUGI.~S C, NLT.F~CD, GOODFELLOWPN. I.EItRACHH: Mapping irrtdatlon Hybrids to Cosmld and Yeast Artificial Chromosome Libraries by Direct Hybridization of AIu-PCR products. Nu¢1¢#¢ Aci¢l* R¢~ 1991, 19:3315-3318. MONTANAROV. CASAM,L%";IMIA. DURSOM, YOONJY, FRE[IEW, SCHLF.SSINGERD, MUENKE1'.I.NUSSHAUMR]~ SACCONE5, ~LM3GEPdS, SMq'IOROAM, MOTI"AS, DEI.LAVAI£EG: Iosltu Hybridization tO Cytogenetlc Bands of Yeast Artificial Chromosomes Covering 50-Percent of Human Xq24-Xq28 DNA. A m J / h i m Genet 1991, 48:183-194. MORSALN, NUNF2";V, C~.Sdd.ST, F2,'TlVnJ.X: CA/GT Mlcrc~atelllte Alleles Within the Cystic Fibrosis Transmembrane Conductance Regulator (CFrR) Gene are not Generated by Unequal Crossingover. Genomics 1991.10:692-698. MUSARRLI&h ~ ?~ONCAKI~rRIGI4TCL MCDOX~.I&C, BURGIIF~ AI'IM, COUL~ONSE, WORTONRG, ROMMF2,b;Jbl: Physlcai Mapping at a Potential X.Linked RetlnitisFlgmentosa Locus (RP3) by PuLsed-Field Gel E l e c t r o p h o r ~ i s . Genomi~" 1991, 11:263-272. NAKAMURAN, SUGINOH, TAKAHARAK, JIN C, FUKUSHIGES, NtAI~UBARAK: Endogenous Retrovtral LTR DNA Sequences as Markers for Individual Human Chromosomes. Cplogenet Cell Gene11991, 57:18-22 NAT.ARE.~rgOSA. OSTRO':ERHOVANV, SPURRNK: Regional Assignment of the Human Cell Cycle Control Gene-CDC2 to Chromosome-10q21 by Lnsltu Hybridization. f l u m Genet 1991, 87:621~22. NI?&-nc D, ZEI{ETNERG, MONACOAP, GELLENL. YOUNGBD, LEHRACHH: Construction. Arraying. a nd High. Density Screening of Large Insert Libraries o f Human Chromosome-X a nd Chromosome-21 . T he ir Potential use as Reference Libraries. Proc Nail Acad Sci U S A 1991, g8:3233-3237. OKUIK) K, HORI N, btATOBAIL NIIYAMAT. MATSUBARAK: • A Novel System for Large.scale Sequencing of CDNA by PCR Amplification. DNA Sequence 1991, 2:137-144. [21]. PARIMOOS, PATgNJALISR~ SHUKLAH, CHAPUNDD, WEISSMAN SM: cDNA Selection: Elflclent PCR Approach for the Selection of CDNAs Encoded in Large Chromosomal DNA Fragments. pro~ Nail Acad Sci U S A 1991, 88:9623-9627. PARRERJD, RABINO~qTCHPS. BUP~IERGC: Targeted Gene Walking Polymerse Chain Reaction. Nucleic Acids Res 1991, 19:3055-3060. PATANJALISPh PARIMOO5, WEISSMANSM: Construction • o f a Uniform-abundance (Normalized) CDNA Library. Proc NalI Acad Sct U S A 1991, 88:1943-1947. [221. P A T T A N ~ U L SN, NAKAYAMAK, TAKAHASHIM, NONAKAM: T hr e e Extra Copies o f a CA-Related Gene in H2W7 Mice are C4/SIp Hybrid G e n e s G e n e r a t e d b y

Multiple Rocombinational Events. I m m u n o g e m , tit~ 1990, 32:431-439. PAVANXX~,HIETER P, SFJ~S D. BURKHOFFA` REEVESPdrl: High-EflBcleocy Yes.st Artificial Chromosome pragmentatlon Vectors. Gene 199I. 106:125-127 PEREIRALD, DE~gNqCKRJ. ADLERDA` DIRTECHECM. SCHUCII,SL~N EH: Regional Assignment of th e Human Acid Sphingomyelinase Gene (SMPDI) by PCR Analysis o f Somatic Cell Hybrids a n d Inaitu Hybridization to l l p 1 5 . 1 - > p 1 5 . 4 . Genomics 1991, 9:229-234. PERF'. A` .~DI.E.F.CABAIJJNR. TARRIDAN, \X'OF-~NERS: GB a n d i n g Improvement for the MAC Method. Cancer Genet C),loge~let 1991, 51:q 1-44. PODDIGHEPJ, MOF~SKERO, SMEETSD, AXX~'ADBH, R?.XlAEKERS FCS, HOPMANAHN: [nterphase Cytogenetics of Hematological Cancer - Comparison of Classical Karyotyping and Inaitu Hybridization Using a Panel of Eleven Chromosome Specific DNA P r o b e s . Co~lcer Rt~ 1991.51:1959-1967 QIN H. KEMPJ. YIp MY. L&MPOTMqGPRL ItOH JFY, MORELS BJ: Localization of Human Cardiac Beta-Myosin Heavy Chain Gene (MYIf7) to Chromosome14 p13, UsIng Fluorescent i n s l i u Hybridization and Southern Hybridlzatinn. Cytogenet Cell Genet 1991, 56:129. STXlTENG, TUCKMULLERCM, Bt.M:a~OREKJ, WONG C, ~ HH, ANTONARAKISSEt Evidence for Involvement o f a n o b e r t s o d i a n Translocation 13- Chromosome in Formation of a Ring Chromos•me-13, Mol Biol Mud 1990, 7:479--484. SUiJKERBtIIJKRF, VANDEVEENA¥, VANECHTENJ, BUYSCHCM, DEJONG B, OOSTERHUI$J~(/, WARBURTONDA. CA~LM6N JJ, SCHONKD, VANKESSELAG: D e m o n s t ra t i o n of th e Genuine iso-12p Character o f the Standard Marker Chromosome of Testicular Germ Cell Tumors a n d Identification of F u rt h e r

Mammalian genetics Genomic imprinting Chromusome-12 Abecratious by Competitive Insltu Hybridizafloo. A m J H u m Genet 1991, 48:269-273. SUNDBERGK, SMIDT-JENSENS: Non-musalc Trtsomy 16 o n Chorionlc Villus Sampling But Normal Placenta and Fetus after Te r mina tion [letter]. Lancet 1991, 337:1233. TEMPLEIK, COCKWELLA, HAS.SOLDT, PEqTAYD, JACOBSP: Maternal Uniparental Disomy for Chromosome14. J Med Gene11991, 28:511-514. THORPEBEESTONJG, NICOIAIDESKH, GOSDENCM, MCGREGOR AM: Thyroid Function in Fetuses w i t h Chromosomal Abnormalities. BMJ 1991, 302:628. TSUJI H, MM'SUDO y, TsuJl S. HANAOEAF, HYODOM, HURl TA: Isolation of Temperature-Sensitive CliOK1 Cell Mutants Exhibiting Chromosomal instability and Reduced DNA Synthesis at Nonpermisslve Temperature. Somat Cell Mol Genet 1990, 16:461-476. VOF~NOVA SG, YUROVYB, KURBATOVMB. ~ / a E V A IZ: Transincatioo T(1-17)(q12-q25) with a Clinical Picture Like of a Proximal Deletion of l q Identification by lusitu Hybridization with Chromosome-l-Specific Satellite DNA probes. H u m Genet 1990, 86:173-174. WAI.I~RSTEINDF ANDOIHEP6:LOw Frequency of MooRs•my 20 Mosalcism In a Llveborn infant with Minor Dysmorphic Features [letter[. Lancet 1991, 337:803. WANGJ-CC, P&%%~GEMB. YEN PH, SHAPIRO lJ, MOHANDASq~; Uniparental Heterodisomy for Chromosome 14 in a phenotypically Abnormal Familial Balanced 13/14 Robertsonian Translocatlon Carrier. Am J H u m Genet 1991, 48:1069-1074. WARBURTOND: de Nov• Balanced Chromosome Rearrangements and Extra Marker Chromosomes Identified at Prenatal Diagnosis - Clinical Significance and Distribution of Breakpolnts. A m J H u m Genet 1991.49:995-1013. WEIER HUG, LUCKSJN, POGGENSEEM. SEGRA~,~.~R` pINKEL D. Gt~AYJW: Two-Color Hybridization with High Complexity Chromosome-Specific P r o b e s and a Degenerate Alpha Satellite Probe DNA Allows Unambiguous Dlscrtmlnatioo Between Symmetrical and Asymmetrical Translocatlons. OJrom~oma 1991, 100:371-376. WII~KIEAOM, MALCOI24 S, PEMBREYME: i s • d i s • m y In BWS o o Chromosomes. Nature 1991, 353:802. [26]. ZAIILERAM, WILLL~L~DNJR, CECIl TR` PRF~COIT DM; l n h l b l f l o o of Telomerase by C~quartet DNA Structures [letter]. Nature 1991, 350:718 ZI~.ANGy, TYCKOB: Monoailelic Expression of the u o Human H19 Gene. Nature Genet 1992, 1:40~4. [51]. ZIEM1N-VAN DER POELS. MCCABE MR, GILLHJ, ESPINOSA R 111,PATEI.Y, HARDENA. RUBINEHJP, SMml SD, LEBEAtlMM, ROXtq~"JD, DIAZMO: Identification of a Gene, MIJ-, that Spans the Breakpoint in 11q23 TranslocatIous Associated with Human Leukaemlas. p r ~ Natl Acad S d U S A 1991. 88:10735-10739.

Genomic imprinting Related review: Mammalian X-chromosome inactivation and the XIST gene (pp 439-447) ADLERD& BRESSLErSk CHAPMAN VM, PAGEDC, DI.~I~CtlE • CM: Inactivation of the Zfx Gene o n the Mouse X Chromosome. proc Nail Acad Sci U S A 1991. 88:4592-4595. [151. A.SHWORTHA. R~-I'ANS, LOVELL-BADGER, KAYG: X0• chromosome Inactivation May Explain the Difference In Viability of X • Humans and Mice. Nature 1991, 351:406-408. [16]. BEHNKRAPPAA. HOLKER1, DESILVAUS, DOERFLERW: patterns of DNA Methylation are Indistinguishable In Dtffesent Individuals Over a Wide Range of Human DNA Sequences. Genomic$1991, 11:1-7. BI~NQUETV, TURLEAUC, DEGROUCHYJ, CREAUGOLDBERGN: Physical Map Around the Retinobla.stoma Gene -Possible Genomic I m p r i n t i n g Suggested by Nrul Digestion. Gun•talcs 1991, 10:350-355. BOSSAN1G. TONLORENZIR, SIMMLERMC, DANIX)IDL AI~AUD • D, CAPITAV. GROMPEM. plZZUTIA, MUZNYD, LAWRENCE C. ET AL: Characterization of a Murtne Gene Expressed from the inactive X Chromosome. Nature 1991, 351:325-328. [38]. BOYESj. BLRDA: DNA Methylation Inhibits • • T~ription Indirectly Via a MethyI-CpG Binding Protein. Cell 1991, 64:1123-1134. [28]. BOYESJ, BIRDA: Repression of Genes by DNA • Methylaflon Depends on CpG Density a nd P r o m o t e r Strength: E v i d e n c e for I n v o l v e m e n t

of a MethyI-CpG Binding Protein. F~IBOJ 1992, 11:327-333. [291. BROCKDORFFN, P6VnVOm'HA. KAYGF, COOPER P, SMITHS, • MCCABE VM, NORRISDP. PENNYGD, PATELD, R/•WAN S: Conservation of Pusltlon and Exclusive Expression of Mouse Xist from th e Inactive X Chromosome. Nature 1991, 351:329-331. [39]. BROWNCJ, BAtI.M3IOA. RUPERTJL. LAFRENIERERG, GROMPE • u M, TONLORENZIR, WILLARDHF: A Geoe from the Regloo o f th e Human X inactivation Centre as Expressed Exclusively from th e Inactive X Chromosome. Nature 1991, 349:38-44. [37]. BROWNCJ, LAFREN1ERERG, POWEKSVE, SEBASTIOG, BAUAmO • A, pETI'IGREWAL. LEDBETTERDH, lzvY E, CRAIGIW, WILLARDHF: Loe*ltT*tloo o f th e X Inactivation Centre on th e Human X Chromosome in Xq13. Nature 1991, 349:82-84. [34]. CLA~J,KE A: Genetic I m p r i n t i n g in CUnical Genetics. Development 1990, Suppl:i 31-139. FRANC• B, GUIOIJ S, PRAGUOLAA. L'~ERT1B, BARDONIB, • TONLORE~/JR` CAREO~ZOR. MAESTRIN1E. PIERETrl M, TAIIJJDN.MItI.ERP, ETAL: A Geoe Deleted in Kallmann's Syndrome Shares Homology with Neural Cell Adhesion and Axonal Path-finding Molecules. Nature 1991, 353:529-536. [7]. HAU.JG: How I m p r i n t i n g is Relevant to Human Diaease. Development 1990. Suppl:141-148. [ZUMIKAWAY. NARn'oMI K. HIRAY&MAK: Replication Asynchrony Between H u m • l o g s 15q11.2 Cytogenetic Evidence for G e o o m l c Imprinting. H u m Genet 1991, 87:1-5. NLMaCOLMS, CIA't'rON SMITH J, NICIIOLS M, ROBB S, WEBB T. AI~.IOIIRJAL: Unlparental Paternal Disomy I'n Angelmans Syndrome. Lancet 1991. 337:694-696. PFEIFERGP, RIGGSAD: Ch r o ma tin Differences Betweeo 0 0 Active a n d Inactive X Chromosomes Revealed by G u n • t a l c Footprtnting of permeablltzed Cells Using DNase 1 and Llgation-mediated PCR. Genes Dev 1991, 5:1102-1113. [26I. QUARREU-OWJ, SNEI.LRG, CURTlSM& ROBERTSSH, I~ARPER PS. StlA'x' DJ: paternal Origin o f the Chromosomal Deletion Resulting in wolf- HIrschhorn Syndrome. J Med Genet 1991, 28:256-259. RIDIEYRaM,FRITHCD, FARRERLA, CONNEAU.YPM: Patterns of I n h e r i t a n c e of th e Symptoms of Huotington's Disease Suggestive o f an Effect of Geoomlc I m p r i n t i n g . J ,tied Genet 1991, 28:22.i-231. TA~OR SAM, DEtIGAI1KV. LILLICRAI' DP: Somatic • Mosalcism and Female-to-Female Transmission in a Kindred with Hemophilia B (Factor IX Deficiency). Proc Nail Acad Sci U S A 1991, 88:39-~i2,

I421. T~t I"1",SIL',~R LM: Escape from Gun•talc I m p r i n t i n g at th e Mouse T-Aasoclated Maternal Effect (Tree) Locus. Genetics 1991, 129:1159-1166. WALKERC L CARGILE CB. FLOYK M, DEI.~NNOYM, MIGEON u BR: T h e Bart" Body is a Looped X Chromosome Formed by T e l • m e r e Association. Proc N a n Acad Sci U S A 1991.88:6191-619~ [30]. YEN PH, ELUSON.I, SALIDOEC, MOIIAND&ST, SIIAPIRO1; • Isolation of a New Gene from th e Distal Short Arm of the Human X Chromosome that Escapes X-inactivation. H u m Mol Genet 1992, 1:47-52. [8].

Molecular basis of disease Related reviews: Prion diseases (pp 448-455)t; Mutations in signal

transduction pathways and inherited diseases (pp 455-458)tt; Molecular genetics of inherited retinal degenerations

(pp 459---466)+; Diabetes mellitus (pp 474-478) ABBSS. YAUSC, CLARKS. MATHI~'CG, BOBROWM: A Convenient Multiplex PCR System for th e Detection o f Dystrophin Gene Deletions - a Comparative Analysis with CDNA Hybrtdisatioo Shows Mistypings by Both Methods. J M e d Genet 1991, 28:304-311. ABRAMSONRD, BARBOSAP, KALUMUCKK, OBRIEN WE: Characterization of the Human Arginiousuccinate Lyase Gene and Analysis of Exon Skipping. Genomics 1991, 10:126--132. ABUL-EZZ SR, WALKERPD, SHAllSV: Role of Glutathlone in an Animal Model of Myoglobinuric Acute Renal Failure. proc Nail Acad Sci U S A 1991, 88:9833-9837. ACSADIG, DICKSONG, LO~ DR, JANIA, WALSHIS, GURUSINGHE A, WOLFFJA, DAVIESKE: Humarl Dystrophin in Mdx Mice after I n tr a mu s c u la r Injection o f DNA Constructs [letter]. Nature 1991, 352:815--817.

ADMR GM, NAIP~ RS, WILSONJH. SCHEERERJB. BROTHERMAN KA: T a r g e t e d G e n e R e p l a c e m e n t at t h e Endogenous APRT Locus ill ClIO Cells. Somat Cell Mol Gene11990, 16:437-441. ADAM S, THE]L~L~NJ, BUETOW K, HEDRICK A, COLLINS C, WEBER B, HUGGINSM, HAVDENM: L i n k a g e Disequilibrium and Modification of Risk for Huntington Dlseam~. A m J H u m Gene11991, 48:595-603. Att,~ud) NN, ALA-KOKKOL KNOWLTONRG, JtMENEZSA, WEAVEREJ, NRGUIP.EJI, TASMANW, PROCKOPDJ: Stop Codon In th e Procollagen il Gene (COL2AI) in a Family with th e Stickler Syndrome (arthroo p h t h a l m o p a t h y ) . Proc N o d Acod Sci U S A 199 I, 88:6624-6627. AHMEDAR, WAGNERR, KtlATRIK. NOTANIG, AWDEtlZ. ALPER CA. YUNISEJ: Major Histocompatlbiltty Complex Haplotypes and Class-H Genes in Non-Jewish Patients with Pemphlgus Vulgarts. Proc N a t l A c a d S¢i U S A 1991, 88:5056-~]60. AIKAWAJ, CHEN~ t KELLEYRI, TADAK, MOSERHW, CHEN GL: Low.Density Particles (W.Parttcles) C o • r a i n i n g Catalase in Zellweger Syndrome and Normal Flbroblasts. Proc Natl Acad S¢i U S A 1991. 88:10084-10088, AKU S, CHELLYJ, LACORIXJM, POEL~t~RUl~ KAHNA2 Seven Novel Tay-Sachs Mutations Detected by Chemical Mismatch Cleavage o f PCR.Amplified CDNA Fragments. Gun•talcs 1991, 11:124-134 .ALDREDM&JAY M, V,L~DOP~ DB, DRY K, HARD~.qCK LJ, • JAY BS, BIRDAC, WRIGHTAF: Linkage In X-iloked Congenital Stationary Night Blindness. Cytogenet Cell Genet {99 I, 58:( abst tact 27425). [36 + ]. ALEXANDERXY¢~,L't.~tt~NS, WAGNEREF: Expression o f Functional C-kit Receptors Rescues the Generic Defect of W Mutant Mast Ceils. F~tlBOJ 1991. 10:3683-3692 AI/TALOT, DEI!SETA, AHRENS P. ALBERTSENHM, ERIK.~ONAW, • DE LACtlAPEIJ.E A: Genetic Mapping of 12 Marker Loci In th e Xp22.3-Xp21.2 Region. H u m Genet 1991, 86:599-(303. [58+]. ALITALOT. KRL~SET& DE LACltAPELLE: Refined • LocalisatIon of the Gene Causing Juvenile Retinoschisis. Genomics 19¢)1,9:505-510 [57+]. AUTALOT. KRL!SET& FOP~SIUSH, ERIK.~ONAW, DE LA • CHAPELLE A: Localisation of the Aland Island Eye Disease Locus to the P e r i c e n t r o m e r i c Region of the X Chromosome by Linkage Analysis. A m J H u m Gene! 1991, 48:31-38. [40+]. ALJADERlaN,GOODCtIILD MC, RY1J~'HC, HARPERPS: Attitudes of Parents of Cystic Fibrosis Children Towards Neonatal Screening and Antenatal Diagnosis. Clio Genet 1990, 38:460-465. AIJJTIO BA. I~tACDONAIJ)ME, Bt!CANM. RICtlAN~ J, ROb.tAN• D, W|IALEYWl~ FAI~ONEB, L~NAZZIj, WEXLERNS, WmMtrm JJ, COm~S FS, LEHRACHH. I-LMNF2;JL, GUSELIA JF: Increa.~d Recombination Adjacent to t h e Huntington Disease- Linked D4S10 Marker. Genomi6s 1991, 9:104-112 AISAGERDE, BO~N P. BAMFORTFIJS: T r e m b l i n g Chin - a Report of This I n h e r ita b le Dominant Character in a Fuur-Generation Canadian Family. C/in Genet 199l. 40:186-189 AN&'~DR` OGIL~qEDJ, BtrrLERR` RILEYJH, FINNIEARRS, POWELLSJ, SMrl'HJC, M.ARta~I AF: A Yeast Artificial Chromosome Contig Encompassing t h e Cystic Fibrosis Locus. Genomics 1991, 9:124-130. ANDEK':~ONJE, LIU l~ KARDAMI E: Distinctive PatterrLs of Basle Flbroblast Growth Factor (bFGF) Distribution In Degenerating a n d Regenerating Areas o f Dystrophic ( m d x ) Striated Muscles. Dev Blot 1991, 147:96-109. ANDERSONMP, GREGORY RJ. THOMPE~DNS, SOUZAOW, PAUL S, MULLIGANRC. SMITHAE, WELSHMJ: Demonstratlou that CFTR is a Chloride Channel by Alteration of Its Anion Selectivity. Science 1991, 253:202-205. PuNDEF6ONMP, WELSHMJ: Calcium and CAMP Activate Different Chloride Channels in th e Apical Membrane of Normal a n d Cystic Fibrosis Epithelia. pro6 Natl Acad Sct U S A 1991, 88:6003-6007. ANGEL]3 KARINM: T h e Role o f J u n , Fus and t h e • AP-1 Complex in Celi-proliferattoo and Transformation. Biocbim Biop~* Acta 1991, 1072:129--157. [7*ft. ANONYMOUS:More Bad Luck for the X c h ro m o s o m e : ct.thalassaemla/mental Retardation [editorial]. Lancet 1991, 338:1562. A~ELLJD, SAMUELK, WHrIThNGH&M[X~, PATEKCE, HARDYK, I-I&m3YStDEAll, JONES KW, MUGGLUror,~U~L5AL TAYLOR All, HOOPER MI~ H y p o x a n t h i n e Phosphoribosyl Transferese Deficiency. Elaematopolesis and Fectiltty In th e Mouse. Developmem 1991, 112:489-498. APLANPD, LOMB.~qDIDP, IORSCHIR: Structural Characterization o f SIL, a Gene Frequently

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The olfactory multigene family Related review: (pp 467-474) BREER H, BOEKHOFF I: O d o r a n t s o f t h e Same O d o r Class • Activate D i f f e r e n t S e c o n d M e s s e n g e r p a t h w a y s . Ox'm Senses 1991.16:19-30. [11]. 151'CK L AXELR: A NOvel M u l t i g e n e Family May E n c o d e • O d o r a n t Receptors: a M o l e c u l a r Basis for O d o r R e c o g n i t i o n . Cell 1991. 65:175-187. [4]. I R)llt2dakN HG, TUORNERJ, C~ON MG, I.EFKOWrrT.RJ: Model Systems for t h e Study o f S e v e n - t r a ~ s m e m b r a n e s e g m e n t Receptors. A n n u Rev Biod~em 1991. 60:653-688. [151. \.~N DER I)IDEG H; C o n t r o l o f A n t i g e n i c V a r i a t i o n in African T r y p a n o s o m e s . N Bio11991. 3:32-I-330. 121].

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Mouse Chromosomes. Cytoge*wt Cell Genet 1990, 54:151-153. LORD~ANCHEZ1, BtNKERTF, MAECHLERM, SCHINZELA=A Molecular Study of X-lsochromusomes - Parental Origin, Centromertc Structure, a n d Meehanbtms o f Formation. A m J H u m Genet 1991, 49:1034-10.I0. LORDASANCHEZ[, PETERSENMB, BIN~ERTF, ~L~ECHLERM, SCI~RD W, ADELSBERGERPA, /h'ZrONARAgISSE, SCHINZEL A~A 48,XXY, + 21 Down Syndrome Patient with Additional Paternal-g and Maternal-21. Hun: Genet 1991, 87:54-56. LOUGHUNSAR. REDHAA, MCP,q~RJ, Boro E, C~OTHEP~ A, CONNORJM: Analysis of the Origin of T u m e r ' s Syndrome Using Polymorphlc DNA P r o b e s . J Med Genet 1991, 28:156-158. LULECIG, HOSGORO, KARAUZUMS, UNERM: A Rare of T u r n e r ' s Syndrome with 45,X/46,X,DIc(X) (qter- > p l 1 . 1 - p l l . 4 - > q t e r ) . Hereditas 1990, 113:217-220. MOWf&NAROV, CASAMASSIMIA, DURSt M, YOONJY, FREIJEW, SCHLL¢61NGERD, MUENKEM, NUSSBADMRL ~CCONE S, MAUGEPdS, SANTOROAM, MOT]'AS, OELLAVALLEG: insltu Hybridization to Cytugenetic Bands of Yeast Artificial Chromosomes Covering 50-Percent of Human Xq24-Xq28 DNA. An: J H u m Genet 1991, 48:185-194. NAKAHOPdy, TAKENAKAO, NAKAGOMEY: A Human X-Y • Homologous Region Encodes 'Amelogedin'. Genomics 1991, 9:264-269. [17]. NAKAHOPay, T&~IURAT, NAGAFUCHIS, FUJIEDAK, NIINOWADt~ S, FUKUTANIK, FUSEH, HAYASHIK, KUROKIY, FUKUSHIMA Y, AGEMATSUK, KUNOT, KANEKOS, Y~d~tADAK, KITAGAWAT, NONOMURAM, FLIKUDAS, KUS&NObl, ONIGATAS, HIBI 1, NAKAGOMEY: Molecular Cloning and Mapping of 10 New Probes on the Human-Y Chromosome. G e n o m i ~ 1991, 9:765-769. PALMERSJ, MAHADEVMAHSK, BURGO~q~EPS: XYY Spermatogenesis in XO/XY/X'YY Mosaic Mice. C),/ogenet Cell Genet 1990, 54:29-34. PEREIRAET, DEA~IEIDAJCC, GUNHAACYRG, PATRONM, TA~OR R, JEEFERYS: Use of Probes for ZFY, SRY, and the Y Pseudoautosomal Boundary in XX Males, XX True Hermaphrodites, and an XY Female. J Med Genet 1991, 28:591-595, POHLSCkhMIDTM, RAPPOLDG, KRAUSEM, AHLERTD, HOSENFELDD, WEISSENBACHJ, GALA: Ring y. Chromosome - Molecular Characteriaation by DNA Probes. Cytogenet Cell Genet 1991, 56:65-68 SHEPHARDF~ POVt~' S, SPURRNK, PHILLIPS[PC Chromosomal Localization of a Cytochromeb5 Gene to Human Chromosome-18 and a Cytochrome.b5 Pseudogene to th e XChromosome. Genomics 1991, 11:302-308. SHINOHARAM, MINOWADAS, ASO Y, YAMM2AK, NAKAHORIY, TAMURAT, NAKAGOMEY: A T(Y,15) Tra~slocatlon w i t h a Deletion of the Proximal Yq in a Boy with Mixed Gonadal Dysgenesis. H u m Genet 1991, 86:442--i44 SIMPSONEM, PAGEDC: All Interstitial Deletion in Mouse-Y Chromosomal DNA Created a Transcribed Zfy Fusion C~oe. Genomics 1991, 11:601~08. SNArrH RP ~.-rAt.: Male-to-female Transsexual with XYY K a r o t y p e . Lancet 1991, 337:557. SPEED P~t, FAEDMJ~V,BATSTONEPJ, BAXBYK, BARNE~ONW: Persistence of Two Y-Chromosomes T h r o u g h Meiotic Prophase and Metaphase-I in an X'YY Man. H u m Get:el 1991, 87:q|6~20. SPENCERJA, SINCLAIRAH, WAI.X;ONJM, GLOVESJAM: ~enes on the Short Arm of the Human X-Chromosome are not Shared with the Marsuplal-X. Genomic.s 1991, 11:339-345. SPURDLEA, RAMSAYM, JENKINST: T h e Y-associated XY275 • LOw Allele is not Restricted to indigenous Aft-lean Peoples. A m J H u m Genet 1992, ( in Press):.

1411. SPUROI£AB, JF.mONST: Y Chromosome Probe P49a • Detects Complex ~ Haplotypes and Many New Tazii Hapintypes in Southern African Populations. A m J H u m Genet 1992, 50:107-127. [23]. TIERSCHTR, MITCHELLMJ, WACHTELSS: Studies on the Phylogenetlc Conservation o f the SRY-Gene. Hunt Genet 1991, 87:571-573. TRASKBJ, MAgSAH, KENWlOCKS, GITSCHIERJ: Mapping of Human Chromosome Xq28 by Two-color Fluorescence In Sltu Hybridization of DNA Sequences to Interphase Cell Nuclei. A m J H u m Gene! 1991, 48:1-15. VIGILANT[. STONEKINGM, HARPENDINGH, HAWKESK, WIL~ON • O AC: Afriean Populations and the Evolution of Human Mltochondrial DNA. Scie~me 1991,

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VOGT p, KEILR. KOHLERM, LENGAUERC, LEWED, LEWEG: Selection o f DNA Sequences from interral-6 o f th e Human Y- Chromosome w i t h Homology to

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Mammalian development

Related review: An overview of developmental genetics in mammals (pp 49&-503) ANDER.&qDNS, BERMdaNDM, JENKINSEP, RUSSELLDW: Deletion of Steroid 5alpha Reductase 2 G~oe in Made Pseudoheemaphrodltlsm [letter]. Nature 1991, 354:I59-160. BLAUHM, BALTIMORED: Differentiation Requires • Continuous Regulation. J Cell Bio11991, 112:781-783. [18]. CHISAKAO, CAPECCHIMR: Regionally Restricted Developmental Defects Resulting from Targeted Disruption o f the Mouse H o m e • b o x Gene Hox1.5. Natlfie 1991. 350:473-479. DESPOSITOM, MOREW F, ACAMPORAD, MIGUACCIO E, SIMEONEA, BONCINELLIE: EVX2, a Human H o m e • b o x Gene Homologous to the EvenSkipped Segmentation Gene, is Localized at the 5' End o f HOX4 Locus on Chromosome-2. Genomics 1991.10:43-50. FtP~gTNL PRATHERRS: Genomte Potential in Mammals. D~erentiation 1991, 48:1-8. FLEISCHM&NRA, SALT,~L~NDL ST&h'TNTV, 7~NELMERS: Deletion of the C-kit Protooncogeoe In the Human Developmental Defect Piebald Trait. Prc~- Nail Acad Sci U S A 1991, 88:10885-10889, GLUECKSOltN-WAELSCHS, DE FR&'~COD: Lethal • Chromosomal Deletions in the Mouse, a Model S y s t e m for t h e S t u d y o f D e v e l o p m e n t

and

Regulation o f Postnatal Gene Expression. Bio~a3,s 1991, 13:557-561 [37]. HEWWTJE, CLARKI_N, IXq~NSA, WII.UA~,L%ONPc Structure and Sequence of the Human Homeobox Gene-HOX'7. Genomic.~ 1991, 11:670-678. I.U M, GONG Z, SHENW, HO AD: The Tel3 Proto Oneogene Altered by Chromosomal Translocation In T CeU Leokemia Codes for a Homeobox Protein. £ t l B O J 1991, 10:2905-2910. MORRISXq. RAt T1L KOZAKCA, GRAYDA, CHANECML CORNELLTJ, TAYLORCB, JONES RF, MCGRATHCM: Characterization of Int-5, a Locus Associated with Early Events in Mamm~,ry Carcinogenesis. One•gone R~¢ 1991, 6:53~3. pALOIA, JAMIJ: Tcp-1 Geoe Is not Responsible for the Maternal Lethality Effect of Thp Motation in Mice. DCa, Bio11991, 143:374-377. RANDALLLMqIERE, BROWNRM, KRAIGE: Binding of Thymlc Factors to the Conserved Decanueleotlde P r o m o t e r E l e m e n t o f t h e T C e l l R e c e p t o r V Beta

Gene is Devedlopmentaliy Regulated and is Absent In SCID Mice. proc Nail Acad Sci U S A 1991, 88:8131-8135. REnM AD, BERNSTEINA: Molecular Basis of Mouse u Developmental Mutants. G e n ~ Dev 1991, 5:1115-1123. [8]. SIL3MSKIR, SCHLOESSERM, CHLEBOWSKAH, REISSj, ENGEL W: Detection of Homan Spermatid-Specific Transcripts in Peripheral Blood Lymphocytes of Males and Females. H u m Genet 1991, 87:307-310 SUR~NIMA. KOT~h~RYR. ALLENND, SINGH PB, FUNDELER. • FERGUSON.SMITHAC, BARTONSC: Genome I m p r i n t i n g and Development in the Mouse. Development 1991, (Suppl):89-98. [12]. WALTHEEC, GDENETJL SIMOND, DELrr~H U, JOSTESB, GOULD1NGMD, PLACHOVD, BALUNGP~ GRUSSP: Pax

Mammalian genetics Population genetics - a Murine Multigene Family of Paired BoxCootalnin 8 Genes. Genomlcs 1991.11:424-434.

WOODGETTJl~ A Common Denominator Linkl~ 8 Glycogen Metabolism, Nuclear Oncogeoes and Development [Review]. Trenda Biochem Sci 1991, 16:177-181. WmGHTC, HOGANB: Developmental Biology: Another Hit for Gene Targeting. Nature 1991, 350:458.

Population genetics AGUIRREA, VICARIOA. MAZONU, ESTO}.mAA. MARTINEZ DE pANCORBOM, ARRIETAPlCOV, PEREZELORTO~'O)O F, IDSTAOCM: Are the Basques a Single and a Unique Population? A m J l t u m Genet 1991, 49:450-458. AIIMED AR. WAGNERP~ KHATRIK, NOTANI G, A~rDEHZ, AIJ'ER CA. YUNISEJ: Major HistocompaUbility Complex Haplotypes and Class.II Geoes in Non-Jewish Patients with Pemphlgus Vuigaris. Proc N a t l A t a d Sci U S A 1991, 88:5056-5060. BALJ, MACIEJKOD, MAZU[tC.tJ~KT, POTOCKAA, KRAWCZAK M, REISSJ: Frequency of the Cystic Fibrosis Mutation DeltaFS08 in Poland [letter[. H u m Genet 1991, 86:329. BtAKEMOREAIF ERz~: Frequency of the G985 MCAD Mutation in the General Population [letter]. Lana, t 1991. 337:298. I}[tOLY F. GARDIGK ,% HElM M, EICHELBAUM M, h|ORIKE K, MRTE[t UA: Debrisoquine/Sparteine Hydroxylatlon Genotype and Phenotype A n a l y s i s of Common Mutations and Alleles of CYP2D6 in a European Population. DNA Ceil Biol 1991, 10:545-558. BURNJ, CHAP~.Ladqp. DEIJ4&N'I3'J, HtOODC, IAIJJDO F, CACHONGONZAI.EZMB, TSIOUPRAK, CIIURCHW, RHODFY, M, GUNN A: The UK Northern Region Genetic Register for Familial Adenomatous Pniyposis Coil - use of Age of Onset, Congenital Hypertrophy of the Retinal Pigment Epithelium, and DNA Markers in Risk Calculations. J M e d Genet 1991, 28:2J~9-296. D~5 MK, DO" B, ROY M, MUKHE[tJEEBN: High Prevalence of Elaemogiobin.E lo Three Populations of the Malda District, West Beugal, India. H u m Hered 19')1, 41:84-88. DASOV1CHM. KONECKID. LICWI~RKONECKIU, EISENSMITHRC, GtrVII£R F. NAUGHTONE, MUiJM.~C, GtOVANNINIM, RIVAE, WOO SIC: Molecular Characterization of PKU Allele Prevalent in S o u t h e r n Europe and Ireland. Somat CelI Mol Genet 1991, 17:303-309. DEKAR. CItAKRAL~RTYR. FERRELLRE: A Population Genetic Study of Six VNTR Loci in T h r e e Ethnically Defined Populations. G e n o m i ~ 1991. 1I:83-92. DEIASALLEC, WU Q, BAt6 Mj, HANAUERA. RUANC, C~.ENAVEJp: Common intragenic and Extragenic Polymorphisms of Blood Coagulation FactorVIII and Factor.IX are Different in Chinese a nd Caucaalan Populations. Clio Genet 1990. 38:43.~|40. DOSSANTOSMR, TANAKA,% MIRANDAMCS, RIBEI[tOMG, MAIA M, SUZUKII~ GM2-Gangilosidosis-BI Variant Analysis of Beta.Hexosaminldase Alpha-Gene Mutations in 11 Patients from a Defined Regioo in Portugal. A m J Itttm Getter 1991, 49:886-890. ELHATJ,It MAF, JARBARF& At~ALEH FZ, ALSWAIL~MAR, WAR.~'Y AS: Patterns of Sickle Cell, Thalassaemia a nd Glucose-6-Phosphate Dehydregenase Deficiency Genes in North-Western Saudi-Arabla. H u m Hered 1991, 41:26-34. FUKUblAy, KASHFFqURAS, NAK&'~OB, UMETSUK, YUASA1, ~NO [: Geoetic Polymorphism of Alpha. 2-HS-Giycoprotein - Four New Alleles and Allele Frequencies in Japanese. H u m Hered 1991, 41:89-92. GAtANELLOR. SANNAMA. I~L~CCtONqL GMPEPaNID, MEUS M`% ROSA'FEBC, MONNIG, CAO A: Fetal Hydrops in Sardinia - Implications for Genetic Counselling. Clin Genet 1990, 38:327-331. GALLtANOM, MINCHIOTI~L PORTAF, ROSSI,% FEI~ G, MADISONJ, WATKINSS, PtrhNAMFW: Mutations in Genetic Variants of Human Serum Albumin Found in Italy. PPO~ Natl Acad Sct U S A 1990, 87:8721-8725 GP.AHAMJB, KUNKELGR. EGIIAIEZNK, WAL~IARK,% FOWLKES DM, LOrDST: The Varying Frequencies of Five DNA Polymorphisms of x-linked ~ u l a n t Factor IX in Eight Ethnic Groups. A m J Hunt Genet 1991, 49:537-544. GI~BNEREE, TOMC2AKJ: Distribution of Thr e e Alpha Chain Beta Hexosaminldese a Mutations Among "gay Sachs Carriers. A m J Hunt Getter 1991, 48:60"1--607. HAI.12dANDM < BOEgWINKI£E, SAttAN, SANDHOLZE[tC. MENZEL HJ, ~ ,% UTEP.MANNG: The Apoilpoprotein E polymorphism: a Comparison o f Allele

Frequencies a n d Effects in Nine Populations. Am J H u m Geue11991, 49:338-349. HARRISONH, MILLERK, OBERC, REFETOFFS, DICK M, EUASS: Ideotlfication of a Serum Protein Polymorphism Via Two- Dimensional rdectrophoresis - Family and Population Studies in TWo Geoetlcnily Isolated Groups - North A m e r i c a n Hutterttes a n d Australian Aborigines. Ant J Hun: @.,net 1991. 48:362-369. JACOBSON DR, REVEtL~JD, BUXBAUMJN: Frequency and Genetic Backgrouod of th e Position 122(Val. > i l e ) Variant T r a n s t h y r e t i n Geoe in the Black Populatioo. A m J H u m Getwt 1991, 49:192-198. JAR;EtA h I n ~ r t t i l e Neuronal Cernid Llpofuscinosis (CLNI) - Linkage Disequilibrium in the Finnish Population and Evidence that Variant Late in f a n tile Form (Variant CI.N2) Represents a Nonalleilc Locus. Genomics 1991, 10:333-337. JEFFE[tYS, WINGAJ, PATTONM: Adult Polycystic Kidney Disease in a Kindred of West i n d i a n Origin Exhibits Linkage w i t h th e 3'HVR Probe on Chromosome-16. J Med Genet 1991, 28:334-336. KAtA':DJ1EVAL ERA/.: PKU Mutation In Southern Europeans [letter]. Lancet 1991, 337:865. KETTERUNGRP. BOTrEMACDK, PHILLIPSJA, SO~LME[t~S: Evidence that Descendants o f T h r e e Founders ConStitute About 25-Percent o f Hemophilla-B in the United-States. Genomics 1991, 10:1093-1096. KIRKIUONqSAJ, RIDDELLDC, SPENCEh ~ , FEN'WICKRG: Fabry Disease in a I a r g e Nova Scotia Kindred -Carrier Detection Using Leucocyte Alpha.Galactosldase Activity a n d an Ncol Polymorphism Detected by an Alpha.Galactosldase CDNA Clone. J Med Get!el 1991, 28:232-240. LANDEI~EC, EI2JS [H. FEN.5OMA]-I,GREENPM, BOB[tOWM: Frequency o f the Tay-Sachs Disease Splice and Insertloo Mutations Io the UK Ashkenazi Jewish Population. J Med Genet 1991, 28:177-180 LEHESJOKIAE, SISTONEN P, P~';I V, DEtACFIAPEU.EA: Hemophlila-A - Genetic Prediction and Linkage Studies in All Available Families in Finland. Clio Genet 1991, 39:199-209. U HJ, 7J~L'~OXN, QIN F, U HW, U L HE XJ, CllANGKS, D ZAI. DANG KX, XING FL CHANGH~, WONG RZ. yANG IL D FS, ZI4ANG"IT, TIANRJ, HtEBBERBB, WIL~DNJB, I'IuISNU~N THJ: Abnormal Hemoglobins Io the s i l k Road Region of China. H u m Genet 1990, 86:231-235. LUco'nx G ERA/.: North-west/south-esst Gradient in AFS08 Frequency in Europe [letter[. lancet 1991. 338:882. MIMORI A. HIDAKAY, WU VC, TARU~ SA. KAMAT/uNIN, KELLEY WN, PALLEtA TD: A M u t a n t A l l e l e C o m m o o t o th e Type I Adenine Phosphoribosyltransferese Deficleocy In Japanese Subjects. A m J H u m Genet 1991, 48:103-107. MODEIJ.B, KULt~'A: Changing Paternal Age Distribution and th e Human Mutatioo Rate in Europe. H u m Genet 1990. 86:198-202. MONONEN l, HEISTERKAMPN, ~ N E N V. %XrlI.LI&MS JC, YATES JR IB, GRIFFIN PR, HOOD LE, GROFFEN J: Aspartylgiycosaminurla in th e Finnish Population: Identification o f Two Point Mutations in th e Heavy Chain in Giycoesparaginase. Proc Nail Acxad $¢i U S A 1991, 88:2941-2945. NEL~ON PV, CARL~"WF, MORmSCP: Population Frequency of th e Arylsniphatese-A Pseudo- Deficiency Allele. H u m Genet 1991, 87:87-88. NUNESV, GASPARJNIP, NOVEIItG, GAONAA~ BONIZZATOA~ SANGIUOLOF, BAL~%~DPOULOUA. GIMENEZFJ, [X3GN1NI M, RAVNIKGtAVACM. CIKUUM, MOKIN1V, KOMELR. DAUAPECOtA B, PIGNATI]PF. LOUKOPOULOSD, CASALS T, ERTIV3LLX: Analysis of 14 Cystic Fibrosis Mutations in Five South European Populations. H u m Genet 1991, 87:737-738. OKANOY, WANGT, EtSENSMITHRC, LONGHIR, RP/AE, GIOVANNINI M, CE[tONER. ROMANOC, WOO SIC: P h e a y I k e t o o u r l a Mlsseose Mutatioos in th e Medlterx-'anean. Genomics 1991, 9:96-103. PACKERC. GILBERTD,% PUSEYAE, O'BPdENSJ: A Molecular Geoetic Analysis of Kinship and Cooperation in African Lions [letter]. Nature 1991, 351:562-564. PRADATP, ROBERTE: Is Trtsomy-18 Increasing in Sweden - an Analysis o f th e Syndrome During a Ten Year P e r i o d and a Comparison with a French Registry. Hereditas 1991, 114:97-102. ROBER'P~DF, ROBERTSMJ, JOHNSTONAW: Genetic Epideminlogy of Down's Syndrome in Shetland. H u m Genet 1991, 87:57-60. ROSENDAAI.FR, B[tOCKERvmENI~ AHJT, VANHOU~EUNGEN JC, SMITC, VAREKAMPI, VANDUCKH, SUURblEIJER TPBM, VANDENBROUCKEJp, BRIEr E: S e x Ratio o f th e Mutation Frequencies In Haemophiila*A Estimatioo and Meta-Analysis. H u m Genet 1990, 86:139-146. SHOHATT, SHOHATM, PEI'ERSENGM, SPARK~ RS, LANGFIELD D, BICKALJ, KORENBE[tGJR, SCHWABEAD, ROTTER

Jh G e n e t i c Marker F a m i l y S t u d i e s i n F a m i l i a l

Mediterranean Fever (FMF) in Armenians. C/in Genet 1990, 38:332-339. SHRIMPTONAE, MCINTOSHJ, BROCKDJH: Th e Incidence of Different Cystic Fibrosis Mutations In the Scottish Popniatiou - Effects on Prenatal Diagnosis a n d Genetic Counselling. J M e d Genet 1991, 28:317-321. STOtLC. ALEMBIKY, DOl1"B, RUTHhiP: Epidemiological a n d Genetic Study in 207 Cases of Oral Clefts in Alsace, North.Easteen France. J ,tied Genet 1991, 28:325-329. STONEKINGM, HEDGECOCKD, HIGUCHIRG, VIGILANTL, ERUCHHA: Population Variation of Human MtDNA Control Region Sequences Detected by Enzymatic Amplification and Sequence-Specific Oli8onucleotlde Probes. A m J H u m Genet 1991, 48:370-382. STURFELTG, TRUEI~SONL JOHANSENP, JONSSON H, NNED O, S30HOLM AG: Homozygous C4A Deficiency in Systemic Lupus-Erythematosus - Analysis o f Patients from a Defined Population. Clio Genet 1990, 38:427-433. TtIOI~':AUJ~"PJ: Population Genetics of Human GIyoxalases. Heredi O, (Edinburgh) 1991.67:139-142. TIKOCfIINSK] Y, ~ U, GROSSSR. PRAEGER EM, WILSONAC: mtDNA Polymorphism In Two Communities of J e w s . A n t i H u m Genet 1991, 48:129-136. TRABUCHETG, EUONJ, DUNDAO, LAPOUMEROUUEC, DUCROCQ R. t'~LADIF1S, ZOHOUN l, CHAVENTREA. CARN"~VALEp, NAGELR~ KRISHNAblOOWrHYR. [ABLED: Nucleotide Sequence Evidence o f the Unicentrtc Origin of the Betac Mutation in Africa. H u m Genet 1991, 87:597~o0I. T'tVIELDLA~OSHORN MJ, HOLTONJB: Molecular Heterogeneity at the Phenylalanine Hydroxylase Locus in the Population of the South-West of E n g l a n d . J Med Genet 1991, 28:244-247. VANDEWATERNS, PdDGWAYD, C~KELFORDPA: Restriction Fragment Length Polymorphisms Associated with the Factor.VD! and Factor-IX Genes in Polyneslans. J M e d Genet 1991.28:171-176. WANGT, OKANOY, EISENSMITHRC. HARVEYML LO WHY. HUANGSZ. ZENGYT, YU&~ILF. FUROYA,~*~J. OURA T, SOMMERSS, WOO SLC: Founder Effect of a Prevalent Ph e n y lk e to n u r ia Mutation in the Oriental Population. proc N a # Acad $¢i U S A 1991, 88:2146-2150. HrANGT, OKANOY. ELSENSMWHRC, UDWHY, HUANGSZ, ZENG 3"]', YUANLF, LIU SR, WOO SLC: MiSsense Mutations Prevalent in Orientals with P h e n y l k e t u n u rl a . Molecular Characterization a n d Clinical Implications. Genomic5 1991, 10:449-456. WHWrARE[t M, JONESJW. BRAVENJ: lmmuuoingtcal Studies of FamUles Segregating the Silent G e o e for Plasma Cholinesterese, H u m Hered 1991, 41:77-83. XIONGWJ, U WH, POSNER 1, YAM~tURAT, YA~L~IOTO ,% GOTTOAM, CHAN L NO Severe Bottleneck During Human Evolution - Evidence from Two Apoilpoproteth-C-II Deficiency Alleles. A m f H u m Genet 1991, 48:383--389. XU H~|, CHENGXF, HUNG LS, IAU 17 BAO YD, HE RG, Z~OU XJ, SHEN7 7 QIU WQ, PONDE[tB: The Geue for Voo Recldinghausen Neurofibromatosis ( N F I ) Maps to the P e r i c e n t r o m e r t c Region o f Chromosome-17 in Chinese Families. Genomica 1991, I0:1090-1092, ZHANGSZ, XIE T, TANGYC, ZHANGS, Xu Y: The Prevalence of Chromosome Diseases in t h e General Population of Sichoan, China. CIin Genet 1991, 39:81-88. ZIMRANA, GELBARTT, WIL~'TWOODB, GP.ABOWSKIGA. BEU'rI~[t E: High Frequency of the Gaueher Disease Mutation at Nucleotide-1226 Amon 8 Ashkenazi J e w s . A m J H u m Genet 1991, 49:855-859. ZYGUIAKAM, EIGELA. AULEHtASCHOLZC, PIErRZYK .U, HORST J: Molecular Analysis o f PKU Haplotypes in t h e Population of Southern Poland. H u m Genet 1991, 86:292-294.

Applications of PCR ABBOTTC, Pov~' S: Development of Human Chromosome-Specific PCR Primer* for Characterization of Somatic Ceil Hybrids. Genomics 1991, 9:73-77. ABBSS, Y^U SC. CLARKS, MATHEWCG, BOBROWM: A Convenient Multiplex PCR System for t h e Detection of Dyatrophin G¢ne Deletiotm - a ComparaUve Analysis with CDNA Hybridisaflou Shows Mlstyping$ by Both Methods. J #led Genet 1991, 28:304-311. AMENDOtAR, HAENDELS, WEIERHU, PALLAVIChNIMG: Transgene i n t e g r a t i o n in Hair FolLicles and P e r i p h e r a l Blood Cells Measured by l n v i t ro

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Mammalian

genetics

Applications of PCR

DNA Amplification and Fluorescence Insltu Hybridization. DNA Cell Bio11991.10:311-317. ASLANIDISC, DE JONG PJ: Coincidence CloBLng o f /do PCR Products. P~C N a t l A c a d S c i U S A 199i, 88:6765"6769. AUREUUSE, JOH&NSSONB, SKOLDEN'BERGB, STAIANDA. FOE~GRENM: Rapid Diagnosis of Herpes Simplex Encephalitis by Nested Polymerase Chain Reaction Assay of Cer~brospinal Fluid. lancet 1991, 337:189-192. BALDINIA, WARDDC: [nsitu Hybridization Banding of Human Chromosomes with Alu- PCR Products - a Simultaneous Karyotype for Gene Mapping Studies. Genomic* 1991, 9:770-774. BESN.MIDLE, BROOKS~LSONAlL WOOD S: Isolation o f DNA Fragments from a Human Chromosomal Subregion by Alu PCR Differential Hybridization. Genomic.~ 1991, 9:241-2q6. BICKNEI.LDC, MARKIED, SPURRNK. BODMES~XrF:The Human Chromosome Content in Human X Rodent Somatic Cell Hybrids Analyzed by a Screening Technique Using AIu PCR. Genomic~ 1991. 10:186-192 BtIDOWLEB, CHAKgMIORTYIL GLUSTIAW. EISENBERGAJ, ALLEN RC: Analysis of the VNTR Locus DISgO by PCR Followed by High-resolution PAGE. A m J H u m Genet i991, 48:137-144. CHEGWIDDENWR. VENTApJ, TA.~HIANRE: PCR Amplification of Genomlc DNA from a 24Year-Old I.ysate Derived from Washed Human E r y t h r o c y t e s . j Med Genet i99i, 28:260-261. CIJLMENSPIL FENWICKRG. CH&~IBERLMNIS. GIBBSRA. DEANDRADEM, CHAKRABORTYIL C&SKEYCT: Carrier Detection and Prenatal Diagnosis la D u c h e n n e and necker Muscular Dystrophy FamUles, Usifi8 Dinucleotide Repeat Polymorphisms. A m J H u m Genet i991, 49:951-960. COt~NALLRJ, ArrSL~NTJ, HEAR:~ CM. TODDJA: The Generation of a Library of PCR.Analy-zed MlcrosatelUte Variants for Genetic ,Mapping o f the Mouse Genome. G e n o m i ~ i991, 10:87"i-881, COV'~.R FE. DA.';S, DOUEKE, CARTERNP, YOUNX3BD: The Generation of DNA Probes to Chromosome11q23 by Alu PCR on Small Numbers of FlowSorted 22q- Derivative Chromosomes. Genomic.~" i991, 9:473-480. COTYERFE, LILLINGTOND, [-L~MPTONG, RIDDI2.P, NASIPURI S. GIBBONSB, YO/rNG BD: Gene Mapping by Mdcrodissectinn and Enzymatic Amplification - Heterogeneity in Leukaemia Associated Breakpoints on Chromosome.ll. Genes O.wonu~some.¢ C2mcer 1991, 3:8-i5. COX RD, COPEIANDNG, JENKINSN& LEItRACHH: Interspersed Repetitive Element Polymerase Chain Reaction Product Mapping Using a Mouse inlet'specific Backcross. Genon~ic.s 1991, 10:375-38-i Cox RD, LEHRACHH: G~aome Mapping + PCR Based Meiotic and Somatic Cell Hybrid Analysis. Bioes~l~ i99i. 13:i93-i98. DRYPJ: Rapid Detection of Alpha-l-Antltrypsin Deficiency by Analysis of a PCR-lnduced Taql Restriction Site. H u m Gene! 1991, 87:742-744. ERUCHHA. GELFLA.NTOD, SNIN.'SKYJJ: Recent Advances In the Polymerase Chain Reaction. Science 1991. 253:1643-1650. ESTIVlLLX RrA£: Prenatal Diagnosis of Cystic Fibrosis by Multiplex PCR of Mutation and Mlcrosatelllte Alleles {letter]. Lancet 1991, 338:458. FEENERCA~ BOYCEFM, KUNKELhM: Rapid Detection of CA Polymorphisms in Cloned DNA - Application to the 5' Region of the Dystrophin Gene. A m J tiunt Gene! 1991, 48:621-627. FONG D, SMITH DI, HSIEHWT: The Human Kifiinogen Gene (KNG) Mapped to Chromosome 3q26-qtec by Analysis of Somatic Cell Hybrids Using the Polymerase Chain Reaction. Hllm Ge~lel 1991, 87:189-192. FUKLW&~IAR, TAKATAM, KUDOHJ, ~ K, TAMURAS, SHIMEU N: DNA Diagnosis of Hydatidiform Mole Using the Polymerase Chain Reaction. H u m Genel i99i, 87:216-218. GAUGH&NG, pARK H, PRIDDI.Ej, CRAIG I, CRAIGS: Refinement of the Localization o f Human llutyrylchofinesterase to Chromosome 3q26.1q26.2 Using a PCR-Derived Probe. Genomics 1991, 11:455-458. GIBBON~IlL AS.MDJ. CITINGNS, DOLECKIGJ, MOCZG, PHILUPSONCA. REN H, T~NGWJY, GIBBON~BH: A PCR Procedure to De te r mine the Sequence of Large Polypeptides by Rapid Walking T h r o u g h a CDNA Library. pro~ Natt Acad Sci U S A 1991, 88:8563-8567. GILULANDDG, BLANCHARDKL LEVYJ, PERRINS, BUN?;HF: ClonaUty i n Myeloprolfferative Disorders: Analysis by Means of the Polymerase

Chain Reaction. Proc N a n Acad Sci U S A 199i, 88:6848~852. GOW JW, BEH&N~,tH, CLEMEN'ISGB, WOODAU_C, RIDINGM. BEH.~NPO: Enterovlral RNA Sequences Detected by Polymerase Chain Reaction ill Muscle of Patients with Postvisal Fatigue Syndrome. BMJ 1991, 302:692-696. GU;rJ.E'I'rAV, DEOC&LUNARM, LUI~KI JR, PATELPh Isolation of Region-Specific and Polymorphic Market-s from Chromosome-17 by Restricted Alu Polymerase Chain Reaction. Genomics 1991, 9:31-36. HADANOS, ttVATANABEM. YOKOIH. KOGI M. KONDO i. TSUCIIWAH, KANATAWAi, WAKASAK, iKEDAJE: Laser Microdissection and Single Unique P r i m e r PCR Allow Generation of Regional Chromosome DNA Clones from a Single Human Chromosome. Genomica 1991, 11:364-373. I'L~*Vq'ON G. LEUYERI'VZG, LUDECKEHI, SENGERG, TRAUTM~'qNU, TtIO:.L-XSH. SOLOMONE. BODMER \Xq:, HOIL~I'HEMKEB, CIAUSSENU, BALUIAUSENWG: Characterization and Mapping of MIcrodissected Genomlc Clones from the Adenomatous Polyposis-Coll (.MAC) Region. Genomic.¢ 199i. 11:247-251. HANJ, I~! C-M, BEO~,'NGB. RADOTA: Direct Amplification o f a Single Dissected Chromosomal Segment b y P o l y m e r a s e C h a i n Reaction: a H u m a n Brain Sodium Channel Gene is on Chromosome 2q22q23. proc Nall Acad Sci U S A i991, 88:335-339. HIt± AVS, AIJ.~OPPCEM. KXXIATO~X.~KID, ANSTEYNM,

GREENWOOI)BM, MCMICllAELAJ: HI.A Class I Typing by PCR: HLA B27 and an African B27 Subtype. Ixmce! 199i, 337:640-6-14. KIBSTI~NSENBE, ASK E, JENKINSA. FEIh~tERC, R,M%TROM P, SKOLDO: Rapid Diagnosis o f Menlngococcal Meningitis by Polymerase Chain Reaction. lxance! 1991, 337:1568. KURTHJH, BOWCOCKAM, ERUCIII-L~ ND,'O S, CAVAL!J SFOI~L~ LL Km Typing with PCR - Application to Population Screening. A m J H u m Genet 1991. 48:613-620 LOVETrM, KERE.I, HINq'ON I.M: Direct Selection: a Method for the Isolation of CDNAs Encoded by Large Genomlc Regions. proc Nail Head Sci U S A 1991, 88:9628-9632. ,MARF~A. IJ~DBETrERSA. I~I)BEYI'ERDH, ROBERTSR. HEJTMANCIKIF: Isolation of a Human Chromosome 14-Only Somatic Cell Hybrid - Analysis Using Mu and LINE-Based PCR. Genomics 1991, 11:215-218, MONACOAP, LAMVMS, ZEHETNERG, LENNONGG, DOIIGI.AS C. NIZE~C D, GOODEELLOWPN, LEItrACH H: Mapping Irrtdatton Hybrids to Cosmid and Yeast Artificial Chromosome Libraries by Direct Hybridization of AIu-PCR Products. NtKleic AcicZ~ Res 1991, 19:3315-3318. MONCKTONDG, JEFFREY.%AJ: Mlnisatelltte Isoallele Discrimination in Pseudohomozygotes by Single Molecule PCR and Variant Repeat Mapping. Genomic.* 199i, 11:465--467. MOORESS, SARGFa~NTLI~ KINGTJ, MA'ITICKIS, GEORGESM, HE'VZELDIS: T h e Conservation of Difiucleotide Mlcrosatellites Among Mammalian Genomes Allows the use of Heterologons PCR P r i m e r Pah's in Closely Related Spectes. Genomics 1991. 10:65q~60. MORRISONKE, GEP~MINOGG, REEDERSST: Use of the Polymerase Chain Reaction to Clone and Sequence a CDNA Encoding the Bovine Mpha3 Chain of Type-iV Collagen. J Biot O~ent 199i, 266:3"t-39. NELSONDL, BALLAIBOA. VICTORIAMF. PIERETHhi, Blbk~, RD, GIBBSRA, MAt.~"JA, CHINAULTAC, WEBSTER TD. CA.sKe3'CT: Alu.Prtmed Polymerase Chain Reaction for Regional Assignment of 110 Yeast Artificial Chromosome

Clones from the Human

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