中国汉族人群HLA-B^＊40组的多态性研究  

Polymorphism of HLA-B*40 Gene Family in Chinese Han Population

作　　者：李桢[1] 金士正[1] 程良红[1] 王大明[1] 周丹[1] 邹红岩[1] 吴国光[1] 

机构地区：[1]深圳市血液中心,输血医学研究所,广东深圳518035

出　　处：《中国实验血液学杂志》2005年第2期215-218,共4页Journal of Experimental Hematology

基　　金：广东省医学科研基金课题;(编号:2003711)

摘　　要：为了研究中国汉族人群HLA-B*40等位基因的分布特点,探讨其可能对临床供者选择的影响,从中华骨 髓库深圳分库中随机抽取381名志愿供者,用PCR-SSO方法进行HLA-B基因分型;另从已分型的1 270例供者中 选出低分辨率结果为B*40纯合子的样本。所有B*40阳性标本采用PCR-SBT及PCR-SSP方法进行高分辨率分 型。结果表明:随机抽取的381例样本通过Hardy-Weinberg平衡检验,HLA-B*40的基因频率为0.1692。在实验 中仅检测到B*4001,B*4002,B*4003,B*4006,其血清学特异性分属B60,B61。各等位基因相对频率B*4001为 0.1192.B*4002为0.0154,B*4003为0.0038,B*4006为0.0308。B*40纯合子在高分辨水平上检测,其等位基因 表现出一定的规律性,低分辨结果为B*40XX(B*4001组),-,高分辨都是B*4001;低分辨为B*40XX(B*4002 组),一,高分辨则为B*4002或B*4006或二者杂合子。结论:中国汉族人群B*40基因家族中B*4001占绝对优 势。为了选择最适供者,建议临床配型中使用高分辨率基因分型。To investigate the allele distribution of HLA-B * 40 gene family in Chinese Han population and to study its influence on the selection of clinical transplantation donor, the HLA-B genetypes of 381 individuals randomly selected from Chinese National Marrow Donor Project were identified by PCR-SSO, and then all the HLA-B* 40 positive samples from the above population and the B * 40 homozygote samples received from another 1 270 registered donors were analyzed by PCR-SBT and PCR-SSP at high resolution. The results showed that the population of 381 registered donors was examined at HLA-B locus by using Hardy-Weinberg equilibrium, the gene frequency of HLA-B*40 was 0. 1692. Four different HLA-B*40 alleles ( B*4001, B*4002, B*4003, B*4006) were identified, and the serological specificity was B60 and B61 respectively. The relative frequency of each allele was 0. 1192 for B * 4001, 0.0154 for B * 4002, 0.0038 for B* 4003, 0.0308 for B* 4006. The distribution of B * 40 homozygote revealed a certain regularity at high-resolution, B*40XX(B*4001 group) , - at low-resolution; B*4001 at high resolution; B *40XX( B*4002 group) , - at low-resolution; B*4002 or B*4006 or heterozygote of both at high-resolution. It is concluded that in Chinese Han population, predominant allele in HLA-B*40 gene family is B*4001, the high-resolution typing may recommeded to use for the selection of clinical transplantation donor

关 键 词：HLA—B基因 HLA—B^＊40基因 高分辨率分型 基因多态性 

分 类 号：R392.4[医药卫生—免疫学] R457.7[医药卫生—基础医学]