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目的 研究中国汉族人群 10个遗传性聋基因座位的短串连重复序列 (STR)的遗传多态性。方法 应用PCR方法对 10个位点进行扩增 ,变性聚丙烯酰胺凝胶电泳分离 ,记录基因型。采用PPAP软件计算正常人各STR位点等位片段频率、基因型频率、预期基因型频率、多态信息量 (PIC)和Hardy Weinberg平衡吻合性检验。结果 中国汉族人群D6S2 87、D8S1132、D13S12 75、D15S130、D1S2 72 6、D4S30 38、D2S2 380、D2 2S2 82、D14S10 4 2、D7S5 2 9各位点分别检出 10个、 9个、 8个、 7个、 7个、 7个、 6个、 6个、 6个及 5个等位片段 ,多态性分布均符合Hardy Weinberg平衡定律。各位点PIC值分别为 0 879、 0 85 4、 0 86 4、 0 82 1、 0 6 86、 0 794、 0 76 4、 0 732、 0 773、0 712 ;杂合度均高于 0 7。结论 中国汉族人群 10个位点STR均具有较高的杂合度和多态信息量 ,是较理想的遗传标记。
Objective To investigate the genetic polymorphisms of short tandem repeat (STR) loci in 10 hereditary deaf loci in Chinese Han population. Methods Ten loci were amplified by PCR and were separated by denaturing polyacrylamide gel electrophoresis. Genotypes were recorded. PPAP software was used to calculate the allele frequency, genotype frequency, expected genotype frequency, polymorphism information (PIC) and Hardy Weinberg equilibrium agreement test of each STR locus. Results There were 10, 9, 8, 7 (superscript th) D6S2 87, D8S1132, D13S12 75, D15S130, D1S2 72 6, D4S30 38, D2S2 380, D2 2S2 82, D14S10 4 2 and D7S5 2 9 in Chinese Han population Seven, seven, six, six, six and five alleles. The distribution of polymorphisms was in accordance with Hardy Weinberg equilibrium law. The PIC value of each locus was 0 879, 0 85 4, 0 86 4, 0 82 1, 0 6 86, 0 794, 0 76 4, 0 732, 0 773 0 712, respectively. The heterozygosity was higher than 0 7. Conclusion All 10 Chinese loci STRs have high heterozygosity and polymorphism information, which is an ideal genetic marker.