用DNA分型研究中国人HLA-A,-C,-B的部分单倍型

目的对ＨＬＡ－Ⅰ类基因同时进行ＤＮＡ基因分型和血清学分型，比较血清学分型的误差及改良的可能性；实测我国华东地区１个相对隔离人群的ＨＬＡ－Ａ－Ｃ－Ｂ单倍型的种类和特点，评估它们的意义。方法对安徽省一个相对隔离人群的两个大家系三代１４个小家庭中共８３人用血清学分型和ＤＮＡ基因分型两种方法进行ＨＬＡ－Ａ－Ｃ－Ｂ三座位的分型。根据遗传分离定律演绎出它们的单倍型并进行分析。结果发现血清学方法的总误差率达１７．２％；但我们认为血清学分型仍有相当大的改进余地。基因分型共检出ＨＬＡ－Ａ基因１２种，Ｂ基因１９种，Ｃ基因１１种；三座位单倍型共３５种；发现ＨＬＡ－Ｂ－Ｃ之间的连锁不平衡远大于Ａ－Ｃ之间；分析判定了３种祖先单倍型；指出遗传漂变的存在对本人群单倍型的非随机性有重要的影响。结论使用本文的研究方法以及获得的结果可为不同地区隔离人群的同类研究提供经验和进行比较

A study on HLA-A-C-B haplotype in Chinese with DNA typing

Objective To compare the results from serology to DNA gene typing method, and by analysing the real HLA A C B haplotype to evaluate their significance. Methods Two large clans with 14 small families total 83 individuals in an isolated village in Anhui province were HLA typed using both serology and DNA methods. Haplotypes were deduced according to the genetic segregation. Results The results showed that the total error appeared in serology was 17.2% in comparison with DNA typing. This error could be partly corrected by reassignment in accordance with DNA typing. Twelve alleles were identified in HLA A locus, 19 in B locus, and 11 in C locus. Thirty five haplotypes were found. The linkage disequilibrium in HLA C B loci was greater than in A C. Three ancestor haplotypes were indentified. Conclusions The existence of genetic drift may be the major factor in contribution of the haplotype differentiation in this isolated population.