中国汉族人群HLA-B*40组的多态性研究

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1270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)，一，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。

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

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