Nucleic Acids Research, Vol. 19, No. 3 683
Two polymorphisms for the human GM2 activator protein gene
A rare insertion/deletion polymorphism at the HEXA locus
B.Bapat, Xie Bei, D.Mahuran and P.N.Ray Department of Genetics and Department of Clinical Biochemistry, Research Institute, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada
K.Neote1 2, B.Bapat2 +*, D.Mahuran1 3 and R.A.Gravel1 2, + 1Department of Clinical Genetics, University of Toronto, 2Department of Genetics and 3Department of Clinical Biochemistry, Research Institute, Hospital for Sick Children, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada
Source/Description: A 300 bp Hincfl/EcoRI fragment of the human GM2 activation protein cDNA (1) was subcloned into Bluescript vector and used as a probe. Polymorphism: MspI identifies a two allele polymorphism with bands at either 3.4 kb (Al) or 2.9 kb (A2) and invariant bands at 1.0 kb, 1.8 kb and 4.0 kb. RsaI identifies a two allele polymorphism with a band at either 4.1 kb (B1) or 3.4 kb (B2) and one invariant band at 2.5 kb. Frequency: MspI-studied in 27 unrelated healthy Caucasians (North America) Al = 0.77 and A2 = 0.23 RsaI-studied in 23 unrelated healthy Caucasians (North American) B1 = 0.18 and B2 = 0.82 Not Polymorphic For: EcoRI, BglIl, BamHI, HindIll, Asp700, TaqI and PstI. Chromosomal Localization: The GM2 activator protein gene has been localized to chromosome 5 by enzyme linked immunoabsorbent assay (ELISA) on human mouse somatic cell hybrids (2). Mendelian Inheritance: Co-dominant inheritance shown in 10 Caucasian families. Probe Availability: Contact D.Mahuran. References: 1) Schroeder et al. (1989) FEBS Let. 251, 197-200. 2) Burg et al. (1985) Ann. Human Genet. 49, 553-560.
43
Kb
Source/Description: A cDNA clone pHexA49 (1), encoding the a-subunit of j-hexosaminidase. The entire cDNA (excised with XhoI) was used as a probe. Polymorphism: XbaI identifies a two allele polymorphism with bands at either 5.0 kb (Al) or 5.2 kb (A2). Two invariant bands of 9.6 kb and 12 kb are also detected. Both SstI and TaqI identify the same polymorphism indicating the presence of an insertion/deletion type of polymorphism. Frequency: Studied in 45 unrelated Caucasians. Al = 0.07 and A2 = 0.93 Also studied in 41 unrelated Ashkenazi Jews Al = 0.04 and A2 = 0.96. Not Polymorphic For: EcoRI, BgllI, Hincdl, BamHI, HindIll and PstI. Chromosomal Localization: The cDNA encoding for the HEXA gene has been localized to l5q23 -24. (2). Mendelian Inheritance: Co-dominant inheritance demonstrated in 3 families. Probe Availability: pHexA49 is available from the American Type Culture Collection. Other Comments: The 5.0 kb allele was not present in several Tay-Sach's cell lines and carriers. References: 1) Korneluk et al. (1986) J. Biol. Chem. 261, 8407-8413. 2) Chem et al. (1977) Somat. Cell Genet. 3, 553-560.
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To whom correspondence should be addressed +Present address: McGill University-Montreal Children's Hospital Research Institute, 2300 Tupper Street, Montreal, PQ, H3H 1P3, Canada
*
Two polymorphisms for the human GM2 activator protein gene
A rare insertion/deletion polymorphism at the HEXA locus
B.Bapat, Xie Bei, D.Mahuran and P.N.Ray Department of Genetics and Department of Clinical Biochemistry, Research Institute, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada
K.Neote1 2, B.Bapat2 +*, D.Mahuran1 3 and R.A.Gravel1 2, + 1Department of Clinical Genetics, University of Toronto, 2Department of Genetics and 3Department of Clinical Biochemistry, Research Institute, Hospital for Sick Children, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada
Source/Description: A 300 bp Hincfl/EcoRI fragment of the human GM2 activation protein cDNA (1) was subcloned into Bluescript vector and used as a probe. Polymorphism: MspI identifies a two allele polymorphism with bands at either 3.4 kb (Al) or 2.9 kb (A2) and invariant bands at 1.0 kb, 1.8 kb and 4.0 kb. RsaI identifies a two allele polymorphism with a band at either 4.1 kb (B1) or 3.4 kb (B2) and one invariant band at 2.5 kb. Frequency: MspI-studied in 27 unrelated healthy Caucasians (North America) Al = 0.77 and A2 = 0.23 RsaI-studied in 23 unrelated healthy Caucasians (North American) B1 = 0.18 and B2 = 0.82 Not Polymorphic For: EcoRI, BglIl, BamHI, HindIll, Asp700, TaqI and PstI. Chromosomal Localization: The GM2 activator protein gene has been localized to chromosome 5 by enzyme linked immunoabsorbent assay (ELISA) on human mouse somatic cell hybrids (2). Mendelian Inheritance: Co-dominant inheritance shown in 10 Caucasian families. Probe Availability: Contact D.Mahuran. References: 1) Schroeder et al. (1989) FEBS Let. 251, 197-200. 2) Burg et al. (1985) Ann. Human Genet. 49, 553-560.
43
Kb
Source/Description: A cDNA clone pHexA49 (1), encoding the a-subunit of j-hexosaminidase. The entire cDNA (excised with XhoI) was used as a probe. Polymorphism: XbaI identifies a two allele polymorphism with bands at either 5.0 kb (Al) or 5.2 kb (A2). Two invariant bands of 9.6 kb and 12 kb are also detected. Both SstI and TaqI identify the same polymorphism indicating the presence of an insertion/deletion type of polymorphism. Frequency: Studied in 45 unrelated Caucasians. Al = 0.07 and A2 = 0.93 Also studied in 41 unrelated Ashkenazi Jews Al = 0.04 and A2 = 0.96. Not Polymorphic For: EcoRI, BgllI, Hincdl, BamHI, HindIll and PstI. Chromosomal Localization: The cDNA encoding for the HEXA gene has been localized to l5q23 -24. (2). Mendelian Inheritance: Co-dominant inheritance demonstrated in 3 families. Probe Availability: pHexA49 is available from the American Type Culture Collection. Other Comments: The 5.0 kb allele was not present in several Tay-Sach's cell lines and carriers. References: 1) Korneluk et al. (1986) J. Biol. Chem. 261, 8407-8413. 2) Chem et al. (1977) Somat. Cell Genet. 3, 553-560.
~~~~At 4c~~~~~~-. 2.2~~~~~~~~~~~-.~
..
23-
936-
--
6 7-
a _w wg^w -
VW
5- -. o 4- -,
so
ew
4..I
0 it 4i
to 00 to
3-
w so *re4
v
S...
Rsaj
23-
MSjI
Sst I
XbaI
ram I
To whom correspondence should be addressed +Present address: McGill University-Montreal Children's Hospital Research Institute, 2300 Tupper Street, Montreal, PQ, H3H 1P3, Canada
*
