湖北骨髓库汉族人群HLA-B^＊ 15多态性分析

Polymorphism of HLA.B^＊ 15 allele family of the Han population in Hubei branch of Chinese Bone Marrow Bank

目的检测湖北骨髓库汉族捐献者HLA-B*15高分辨基因型,了解其基因频率和基因多态性分布特点。方法采用PCR-SBT的分型技术,对3 325名汉族捐献者进行HLA-B高分辨基因分型;基于等位基因频率,采用Hierarchical Clustering算法对各人群进行聚类分析。结果 3 325例分型结果中,HLA-B分布符合Hardy-Weinberg平衡定律。共检出16种HLA-B*15等位基因和8种血清学特异性,基因频率排在前5位的是:B*15∶01(0.047 67),B*15∶02(0.045 56),B*15∶11(0.016 09),B*15∶18(0.009 92),B*15∶27(0.009 32)。在B*15等位基因家族中,表达B62抗原的B*15等位基因多态性最强,共检出7种等位基因,共占47.15%;表达B75抗原的等位基因B*1502、B*1511和B*1521共占41.85%。我国南方和北方汉族人群在基因频率上存在显著的差异。如等位基因B*15∶02的频率在北方和南方人群中分别为0.017 8和0.096 69。尽管湖北汉族与我国南方汉族聚为一族,但在基因频率上表现出从北到南的过渡形态。结论在湖北骨髓库汉族捐献者中HLA-B*15等位基因水平表现出丰富的多态性和特有的分布特征;湖北汉族具有典型的我国南北人群交流的特征。

Objective To investigate the polymorphism and frequency of human leukocyte antigen （HLA） B^＊ 15 allele family of the Han population in Hubei branch of Chinese bone marrow bank, and to compare the frequency of the population between Hubei and other regions and provide reference for cross-region hematopoietic stem cell matching. Methods Polymerase chain reaction sequence-based typing （PCR-SBT） method was used to determine HLA-B^＊ 15 genotypos of 3,325 Han population in Hubei branch of Chinese bone marrow bank. The allele frequencies were analyzed by square root method, and the clustering analysis between different populations was conducted by hierarchical clustering method. Results The distribu- tion of HLA-B^＊ 15 gene of randomly selected 3 325 samples in Hubei branch accorded with Hardy-Weinberg equilibrium. A total of 16 kinds of alleles of HLA-B^＊ 15 gene family which belonged to eight types of serologic speeifieities were detected in these samples. Alleles B^＊ 15：01 （0. 047 67 ） ,B^＊ 15：02（0. 045 56） ,B^＊ 15 ： 11 （0. 016 09） ,B^＊ 15 ： 18（0. 009 92）, and B^＊ 15：27（0. 009 32） were the five most frequent allele families. Among the detected serologic types,the case numbers of B62 and B75 were the two biggest types. B62 also contains most diverse Of alleles, and 7 alleles was found in it. A distinct allelie distance between Han population in northern China and southern China was observed in this study. The frequencies of alleles B^＊ 15：02 in Han population from northern China and southern China were 0.017 8 and 0.096 69, respectively. Based on the gene frequencies,the Han population in Hubei was close to Siehuan population and clustered into South China populations, while the population in this region still exhibits the transient-region characteristics. Conclusion HLA-B^＊ 15 allele family of the Han population in Hubei branch of Chinese bone marrow bank exhibited abundant polymorphlsm and specificity. The Han population in Hubei,while clustered in South China population exhibited a unique distribution which is typical in the North-South transition region ,providing a more diverse bank for clinical blood transfusion and immunological matching.