HLA-DRB1新等位基因DRB1＊1610的发现

Sequence analysis of a novel HLA-DRB1 allele, DRB1＊1610

目的对HLA新的等位基因HLA-DRB1＊11610的分析。方法采用商用DNA试剂盒抽提样本基因组DNA，利用HLA-DRB1组特异性引物PCR扩增先证者HLA-DRB1基因的第2外显子，PCR产物经割胶回收后进行测序分析。结果先证者有两个HLA-DRB1等位基因，其中一个为HLA-DRB1＊1202，另一个HLA-DRB1等位基因经BLAST验证为新的等位基因，新的等位基因序列已递交GenBank（DQ192647）。与最接近的DRB1＊1160201等位基因序列相比，新的等位基因仅在第2外显子上有1个核苷酸不同，即第227位A-T，导致第47位氨基酸Tyr→Phe。结论该等位基因为新的HLA-DRB1等位基因，被世界卫生组织HLA因子命名委员会正式命名为HLA-DRB1＊1610。

Objective To investigate the molecular genetics basis for human leukocyte antigen （HLA） novel allele HLA-DRB1 ＊ 1610 in Chinese population. Methods Genomic DNA was extracted from whole blood by commercial DNA extraction kit. HLA-DRB1 exon 2 was amplified by PCR using group-specific primers from genomic DNA. PCR products were excised and purified from agarose gels and sequenced directly for both orientation. Results The sequencing results showed HLA-DRB1 alleles of the proband as DRB1 ＊ 1202 and the novel allele. The sequences of the novel allele have been submitted to Gen-Bank （DQ192647）. After BLAST analysis, the novel allele differs from DRB1 ＊ 1610 by a single nucleotide at position 227A→T in exon 2. This results in an amino acid change from Tyr to Phe at cedon 47. Conclusion This allele is a novel allele and has been officially named DRB1 ＊ 1610 by the WHO Nomenclature Committee.