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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
OBJECTIVE: To genotype and classify HLA-Ⅰ genes by genotyping, to compare the error of serological typing and the possibility of improvement. HLA-A-C-B haplotype of a relative isolated population in East China The type and characteristics of the assessment of their significance. METHODS: Eighty-three pedigrees from three families and 14 pedigrees in two relatives of an isolated population in Anhui Province were enrolled in the HLA-A-C-B three-loci typing by serological typing and DNA genotyping. According to the law of genetic separation deduce their haplotype and analyze. The results showed that the total error rate of serological methods was 17.2%; however, we think there is still considerable room for improvement in serotyping. A total of 12 HLA-A genes, 19 B genes and 11 C genes were detected by genotyping. A total of 35 haplotypes of three loci were found. The linkage disequilibrium between HLA-B and C was much greater than that of A-C Among them, three kinds of ancestral haplotypes were analyzed and identified. It is pointed out that the existence of genetic drift has an important influence on the non-randomness of haplotypes in our population. Conclusions The research methods used and the results obtained in this study can provide experiences and comparisons for similar studies of isolated populations in different regions