中国部分汉族人群362种HLA单倍型的家系调查及重组单倍型分析

本研究旨在发现中国人群人类白细胞抗原（humanleukocyteantigen，HLA）-A—B—DRBI新单倍型，调查mA单倍型分布特征。采用179个家庭及子女HLA．A、B、DRBl位点的基因分型结果，通过家系和HLA遗传模型特征分离分析791条HLA单倍型。结果发现4条新的HLA重组单倍型，重组位点位于HLA—DRB1基因座位，其中3条重组单倍型来自父源染色单体，1条来自母源染色单体，其比例为3：1。HLA—DRB1与A或B基因位点重组率为0．92％（4／433）。通过家系调查HLA分离分析得到362种HLA～A—B～DRB1单倍型，其中A33-B58-DR17、A2．B46．DR9、A30-B13-DR7、A11-B13-DR15、A11-B75-DR12和A2-B46-DR14单倍型检出频率最高，与应用非血缘供者人群的HLA基因分布调查资料的结果-致，但A1-B63-DR12、A29-B46-DR15、A1-B61-DR10、A34-B35-DR9、A29-B54-DR4、A23-B13-DR16、A34-B62-DR15等单倍型是非血缘供者人群HLA基因分布调查资料为未被报道过的罕见单倍型。结论：通过家系HLA单倍型调查能清楚地确定HLA—A—B—DRB1单倍型型别。本研究结果将为人类HLA研究、器官移植及HLA疾病相关性分析等提供重要依据。

A Total of 362 HLA Different Haplotypes and HLA Recombination Haplotypes Based on Analysis of Their Family Pedigree in Chinese Partial Han Populations

This study was aimed to discover the novel HLA recombination haplotypes and investigate the distribution of haplotypes in Chinese Han population. Based on the HLA-A, B, DRB1 typing results of 179 family members, 791 haplotypes were assigned by the mode of inheritance. The results showed that a total of 4 novel recombinant haplotypes in HLA-DRB1 locus region were observed in 4 families, which ratio of paternal to maternal chromosomes was 3： 1. The recombination ratio between HLA-DRBI and HLA-A or B loci was 0.92 % （4/433）. There were a total of 362 kinds of HLA-A, -B, -DRB1 haplotypes to be confirmed in Chinese Hart partial population. A33-B58-DR17, A2-B46-DR9, A30-B13-DRT, A11-B13-DR15, A11-B75-DR12 and A2-B46-DR14 were the most common haplotypes that was consistent with the distribution of HLA alleles in unrelated donors. There were A1-B63-DR12, A29-B46-DR15, A1- B61-DR10, A34-B35-DR9, A29-B54-DR4, A23-B13-DR16 and A34-B62-DR15 haplotypes and so on, which were rare haplotypes not yet reported in Chinese. It is concluded that the HLA -A-B-DRB1 haplotypes would be confirmed by analysis of their family pedigree. The results obtained in this study are basic data for study of Chinese anthropology, organ transplantation and disease correlation analysis.