A novel HLA-DQB1*05:15 allele was identified in a Chinese individual Z.-D. Han1,2 , W. Wang1,2 , J. He1,2 , F.-M. Zhu1,2 & H.-J. Lv1,2 1 HLA typing laboratory, Blood Center of Zhejiang Province, Hangzhou, China 2 Key Laboratory of Blood Safety Research, Ministry of Health, Hangzhou, China Key words: HLA-DQB1*05:15; new allele; polymerase chain reaction sequence-based typing
HLA-DQB1*05:15 differs from DQB1*05:03:01:01 by a single nucleotide substitution at codon 80 (AGA>AAA). HLA-DQB1 molecule belongs to the human leukocyte antigen (HLA) class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DQA) and a beta chain (DQB), both anchored in the membrane, which plays a central role in the immune system by presenting peptides derived from extracellular proteins. It was reported that several alleles of HLA-DQB1 are associated with an increased risk of developing type 1 diabetes, celiac disease and multiple sclerosis (1). Currently, more than 509 HLA-DQB1 alleles have been identified in the IMGT/HLA database release 3.15.0 (2). Here, we report a novel HLA-DQB1*05:15 allele, which has been identified in a volunteer Chinese bone marrow donor. Genotyping for HLA-A, -B, -C, -DRB1 and -DQB1 polymorphisms is routinely done for bone marrow transplantation 246
in our laboratory. In March 2012, the DNA samples of a potential bone marrow recipient–donor pair were retyped with the method of high-resolution HLA-A, -B, -C, -DRB1 and -DQB1 sequence-based typing. Routine heterozygous polymerase chain reaction amplification of HLA-A, -B, -C, -DRB1 and -DQB1 loci was performed with commercial Kits (Life Technologies, shanghai, China) according to the manufacture’s instruction. The sequencing reaction products were processed with an ABI 3730 DNA Analyzer (Applied Biosystems, Foster City, CA) and analyzed with an ASSIGN 3.5+ software (Conexio Genomics, Applecross, Australia). The DNA sequencing result of HLA-DQB1 locus of the bone marrow donor was assigned as HLA-DQB1*05:02:01,05:03:01:01 with one nucleotide mismatch at position 335 of the exon 2 by ASSIGN 3.5+ software, suggesting the presence of a novel allele. In order to further assign the HLA-DQB1 alleles in the sample, the sequences of exons 2–3 of HLA-DQB1 locus © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd Tissue Antigens, 2014, 84, 238–254
Figure 1 Alignment of the exon 2 of HLA-DQB1*05:15 with the sequence of HLA-DQB1*05:03:01:01. Dashes indicate nucleotide identity with the HLA-DQB1*05:03:01:01 sequence. Numbers above the sequence correspond to codon position.
were analyzed according to our previously reported (3, 4). The sequencing results showed HLA-DQB1 alleles of the sample as HLA-DQB1*05:02:01 and a novel allele. The sequencing of the new allele was identical to that of DQB1*05:03:01:01 except for one base change at nucleotide position 335G>A in exon 2, resulting in one amino acid change from Arg to Lys at codon 80 (Figure 1). The nucleotide sequence has been submitted to the GenBank nucleotide sequence database and the accession number was JQ828988. The HLA genotype of the donor was HLA-A*02:01,24:02; B*48:01,55:02; C*01:02,08:22; DRB1*14:05, 14:54 and DQB1*05:02,05:15. The name DQB1*05:15 has been officially assigned by the World Health Organization (WHO) Nomenclature Committee in April 2012. This follows the agreed policy that, subject to the conditions stated in the most recent Nomenclature Report (5), names will be assigned to new sequences as they are identified. Lists of such new names will be published in the following WHO Nomenclature Report.
China Tel: 86 571 85167837 Fax: 86 571 85167816 e-mail: [email protected] doi: 10.1111/tan.12370
Acknowledgments
This work was sponsored by Zhejiang Provincial Program for the Cultivation of High-Level Innovative health Talents, and Science Research Foundation of Zhejiang Healthy Bureau (2011ZDA005, 2013ZDA007, 2013RCB003, 2012KYA059 and 2012KYA061).
Conflict of interests
The authors have declared no conflicting interests. Reference
Correspondence
Faming Zhu Blood Center of Zhejiang Province Key Laboratory of Blood Safety Research Ministry of Health Wulin Road 345, Hangzhou Zhejiang Province 310006
© 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd Tissue Antigens, 2014, 84, 238–254
1. Sugihara S, Ogata T, Kawamura T et al. HLA-class II and class I genotypes among Japanese children with Type 1A diabetes and their families. Pediatr Diabetes 2012: 13: 33–44. 2. Robinson J, Halliwell JA, McWilliam H, Lopez R, Parham P, Marsh SGE. The IMGT/HLA Database. Nucleic Acids Res 2013: 41: D1222–7. 3. Tao SD, He YM, He J, Zhu FM, Lv HJ. Identification of a novel HLA-DQB1*03:38 allele by polymerase chain reaction
247
sequence-based typing in a Chinese bone marrow donor. Tissue Antigens 2012: 80: 198–9. 4. Zhang W, Wang W, Zhu FM, Lv HJ, Yan LX. Characterization of a novel allele, HLA-DQB1*05:03:05. Tissue Antigens 2012: 79: 311–2.
248
5. Marsh SGE, Albert ED, Bodmer WF et al. Nomenclature for factors of the HLA system, 2010. Tissue Antigens 2010: 75: 291–455.
© 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd Tissue Antigens, 2014, 84, 238–254
HLA-DQB1*05:15 differs from DQB1*05:03:01:01 by a single nucleotide substitution at codon 80 (AGA>AAA). HLA-DQB1 molecule belongs to the human leukocyte antigen (HLA) class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DQA) and a beta chain (DQB), both anchored in the membrane, which plays a central role in the immune system by presenting peptides derived from extracellular proteins. It was reported that several alleles of HLA-DQB1 are associated with an increased risk of developing type 1 diabetes, celiac disease and multiple sclerosis (1). Currently, more than 509 HLA-DQB1 alleles have been identified in the IMGT/HLA database release 3.15.0 (2). Here, we report a novel HLA-DQB1*05:15 allele, which has been identified in a volunteer Chinese bone marrow donor. Genotyping for HLA-A, -B, -C, -DRB1 and -DQB1 polymorphisms is routinely done for bone marrow transplantation 246
in our laboratory. In March 2012, the DNA samples of a potential bone marrow recipient–donor pair were retyped with the method of high-resolution HLA-A, -B, -C, -DRB1 and -DQB1 sequence-based typing. Routine heterozygous polymerase chain reaction amplification of HLA-A, -B, -C, -DRB1 and -DQB1 loci was performed with commercial Kits (Life Technologies, shanghai, China) according to the manufacture’s instruction. The sequencing reaction products were processed with an ABI 3730 DNA Analyzer (Applied Biosystems, Foster City, CA) and analyzed with an ASSIGN 3.5+ software (Conexio Genomics, Applecross, Australia). The DNA sequencing result of HLA-DQB1 locus of the bone marrow donor was assigned as HLA-DQB1*05:02:01,05:03:01:01 with one nucleotide mismatch at position 335 of the exon 2 by ASSIGN 3.5+ software, suggesting the presence of a novel allele. In order to further assign the HLA-DQB1 alleles in the sample, the sequences of exons 2–3 of HLA-DQB1 locus © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd Tissue Antigens, 2014, 84, 238–254
Figure 1 Alignment of the exon 2 of HLA-DQB1*05:15 with the sequence of HLA-DQB1*05:03:01:01. Dashes indicate nucleotide identity with the HLA-DQB1*05:03:01:01 sequence. Numbers above the sequence correspond to codon position.
were analyzed according to our previously reported (3, 4). The sequencing results showed HLA-DQB1 alleles of the sample as HLA-DQB1*05:02:01 and a novel allele. The sequencing of the new allele was identical to that of DQB1*05:03:01:01 except for one base change at nucleotide position 335G>A in exon 2, resulting in one amino acid change from Arg to Lys at codon 80 (Figure 1). The nucleotide sequence has been submitted to the GenBank nucleotide sequence database and the accession number was JQ828988. The HLA genotype of the donor was HLA-A*02:01,24:02; B*48:01,55:02; C*01:02,08:22; DRB1*14:05, 14:54 and DQB1*05:02,05:15. The name DQB1*05:15 has been officially assigned by the World Health Organization (WHO) Nomenclature Committee in April 2012. This follows the agreed policy that, subject to the conditions stated in the most recent Nomenclature Report (5), names will be assigned to new sequences as they are identified. Lists of such new names will be published in the following WHO Nomenclature Report.
China Tel: 86 571 85167837 Fax: 86 571 85167816 e-mail: [email protected] doi: 10.1111/tan.12370
Acknowledgments
This work was sponsored by Zhejiang Provincial Program for the Cultivation of High-Level Innovative health Talents, and Science Research Foundation of Zhejiang Healthy Bureau (2011ZDA005, 2013ZDA007, 2013RCB003, 2012KYA059 and 2012KYA061).
Conflict of interests
The authors have declared no conflicting interests. Reference
Correspondence
Faming Zhu Blood Center of Zhejiang Province Key Laboratory of Blood Safety Research Ministry of Health Wulin Road 345, Hangzhou Zhejiang Province 310006
© 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd Tissue Antigens, 2014, 84, 238–254
1. Sugihara S, Ogata T, Kawamura T et al. HLA-class II and class I genotypes among Japanese children with Type 1A diabetes and their families. Pediatr Diabetes 2012: 13: 33–44. 2. Robinson J, Halliwell JA, McWilliam H, Lopez R, Parham P, Marsh SGE. The IMGT/HLA Database. Nucleic Acids Res 2013: 41: D1222–7. 3. Tao SD, He YM, He J, Zhu FM, Lv HJ. Identification of a novel HLA-DQB1*03:38 allele by polymerase chain reaction
247
sequence-based typing in a Chinese bone marrow donor. Tissue Antigens 2012: 80: 198–9. 4. Zhang W, Wang W, Zhu FM, Lv HJ, Yan LX. Characterization of a novel allele, HLA-DQB1*05:03:05. Tissue Antigens 2012: 79: 311–2.
248
5. Marsh SGE, Albert ED, Bodmer WF et al. Nomenclature for factors of the HLA system, 2010. Tissue Antigens 2010: 75: 291–455.
© 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd Tissue Antigens, 2014, 84, 238–254
