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Jin S.-Z.,Shenzhen Blood Center Institute | Gao S.-Q.,Shenzhen Blood Center Institute | Zou H.-Y.,Shenzhen Blood Center Institute | Deng Z.-H.,Shenzhen Blood Center Institute
Chinese Journal of Medical Genetics | Year: 2011

Objective: To identify a novel human leukocyte antigen (HLA) allele A * 02:251 and analyze the sequences in Chinese population. Methods: Routine HLA-A, -B, -DRB1 high resolution genotyping for healthy Chinese donors and patients was performed with polymerase chain reaction-sequence based typing. An unknown HLA-A allele was initially detected by HLA typing in the healthy donor. Genomic DNA of the HLA-A locus in the proband was amplified, the amplified product was cloned by PMD18-T to split the two alleles, and selected clones were sequenced. Results: The sequencing results showed that a normal A * 02:06:01 and a novel A * 02:251 variant allele were identified. The sequence of the novel allele has been submitted to GenBank (HM245348). Nucleotide sequence alignments with HLA-A allele from the IMGT/HLA Sequence Database showed that the novel A * 02 variant allele differed from the closest allele A * 02:01:01:01 by nt 383 G>C (codon 128 GAG>GAC) in exon 3, which resulted in one amino acid substitution of Glu>Asp. The HLA-A, B, C and DQB1 alleles of the healthy donor did not match with that of the patient. Conclusion: This novel allele is officially designated as HLA-A * 02:251 by World Health Organization (WHO) Nomenclature Committee (Submission ID HWS10010755). The sequence of HLA-A locus in exon 3 is confirmed to be polymorphic in Chinese population.

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