中国南方汉族人群中一个常见型新等位基因HLA-C＊08：22的基因频率调查和分析  

Investigation and Analysis of A Common Allele HLA-C＊08：22 Frequency in the Chinese Southern Han Population

作　　者：鲍自谦[1] 王大明[1] 邓志辉[1] 徐筠娉[1] 

机构地区：[1]深圳市血液中心,广东深圳518035

出　　处：《中国实验血液学杂志》2011年第6期1493-1495,共3页Journal of Experimental Hematology

基　　金：广东省科技计划资助项目;编号2008B030301277

摘　　要：本研究调查南方汉族人群中1个常见型的HLA新等位基因C*08:22的基因频率。对163份南方汉族无血缘关系个体血样进行常规的HLA-C基因第2、第3和第4外显子测序分型;对所检出的32份带有C*08:01:01/08:22模棱两可结果的样本,进一步增加HLA-C基因的第5和第6外显子测序。在C*08:22被发现和获得WHOHLA因子命名委员会认可前,对40例被鉴定携带C*08:01:01等位基因的无血缘关系供/受者进行HLA-C基因外显子2-6再测序。所有的序列均导入Assign 3.5 SBT软件,分析等位基因型。结果表明,32份无血缘关系个体检出C*08:01:01/08:22模棱两可结果的样本中,发现3例样本鉴定为C*08:22,南方汉族无血缘关系个体中C*08:22的基因频率为0.92%。回顾性分析以往40例携带C*08:01:01等位基因的无血缘关系供/受者对发现,其中2对供/受者实际为C*08:22。结论:C*08:22在南方汉族中为常见型的HLA等位基因,当测序分型出现C*08:01:01/08:22模棱两可的结果时,不能轻易视为罕见型等位基因而错误地排除。This study was purposed to investigated and analyze the allelic frequency of a common allele HLA-C＊08：22 in the southern Chinese Han population.A total of 32 samples with the C＊08：01：01/08：22 ambiguous results previously identified in 163 unrelated southern Chinese Han population by routine sequencing based typing（SBT） at exons 2-4 of HLA-C gene were subjected to HLA-C SBT at exons 5 and 6 using our in-house method.Forty C＊08：01：01-positive unrelated donor/recipient pair identified before the C＊08：22 allele were officially nomenclatured and released by the World Health Organization（WHO） Nomenclature Committee for Factors of HLA System,were re-sequenced at exons 2-6 of HLA-C gene by our in-house SBT method.The allele assignment was accomplished with the Assign 3.5 SBT software.The results showed that three samples were identified as C＊08：22-positive in the 32 samples with C＊08：01：01/08：22 ambiguous results,the allele frequency of C＊08：22 was 0.92% in the southern Chinese Han population.Retrospective analysis indicated that 2 donor/recipient pairs previously identified as C＊08：01：01-positive were actually C＊08：22-positive in the 40 tested donor/recipient pairs.It is concluded that the novel C＊08：22 allele is the common allele in southern Chinese Han population,it can′t be considered as rare allele and is ruled out for the samples with C＊08：01：01/08：22 ambiguous results.

关 键 词：人类白细胞抗原 新等位基因 C*08 测序分型 基因频率 

分 类 号：R457.1[医药卫生—治疗学] R457.11[医药卫生—临床医学]