中国人群HLA-DRB1*1454等位基因和HLA-DRB1第3外显子鉴定意义(英文)

Identification of human leukocyte antigen-DRB1*1454 allele and human leukocyte antigen-DRB1 exon 3 sequence information in the Chinese population

目的:在中国人群中鉴定人类白细胞抗原(human leukocyte antigen,HLA)DRB1*1454等位基因,分析供受者HLA-DRB1第3外显子DNA序列信息对器官移植、细胞移植及人类遗传学研究的重要现实意义。方法:应用聚合酶链反应-直接测序分型方法对58例等待造血干细胞移植供受者进行人类白细胞抗原测序分型,1268例广东地区随机健康供者采用聚合酶链式反应-序列特异寡核苷酸探针反向杂交法进行HLA-DRB1中高分辨基因分型,部分模棱两可结果采用聚合酶链式反应-序列特异引物PCR-SSPHLA-DRB*14高分辨方法分型法。结果:在1268例广东地区随机健康人群中检出HLA-DRB1*1403,1406,1410,1412,1418,1425和1454等位基因,HLA-DRB*1401/1434/1454等位基因模棱两可结果的8例样本被确认为HLA-DRB1*1454等位基因,DRB1*1454等位基因可能是广东人群最为常见的HLA-DRB1*14基因。中国人群HLA-DRB1*14第3外显子存在多态性。结论:中国人群HLA-DRB1*1454等位基因确认了DRB1等位基因第3外显子多态性的存在,进一步明确了开展中国汉族人群及少数民族HLA-DRB1第3外显子检测的意义。

AIM： To identify human leukocyte antigen （HLA）-DRB1＊1454 allele and HLA-DRB1 exon 3 sequence information in the Chinese population, which is significant for organ transplantation, cell transplantation, and human genetics. METHODS： Polymerase chain reaction sequence-based typing （PCR-SBT） was used to identify HLA-DRB1 alleles from 58 donor-recipient individuals who would undergo haemopoietic stem cell transplantation. Medium to high resolution polymerase chain reaction-reverse sequence specific oligonucleotide probe （PCR-RSSOP） was used to identify HLA-DRB1 alleles from 1 268 healthy donors from Guangdong province. The some ambiguous results of HLA-DRB1＊14-associated alleles were confirmed by high resolution polymerase chain reaction-sequence-specific primer typing （PCR-SSP）. RESULTS： HLA-DRB1＊1403, 1406, 1410, 1412, 1418, 1425 and 1454 alleles were detected in 1 268 healthy donors. HLA-DRB1＊1454 was confirmed in 8 ambiguous results of HLA-DRB1 1401/1434/1454 alleles, and HLA-DRB1＊1454 was one of common alleles of HLA-DRB1 ＊14 allele group in Guangdong population. HLA-DRB1＊14 exon 3 sequence information was confirmed to be polymorphic in Chinese population. CONCLUSION： HLA-DRB1＊1454 and exon 3 of DRB1 are confirmed to be polymorphic in Chinese population, further elucidating that HLA-DRB1 exon 3 sequence information is important for Han population and some minority groups.