陕西汉族人群12号染色体上7个STR基因座的遗传多态性分析

Analysis of Genetic Polymorphism of 7 STR Loci on Chromosome 12 in Shaanxi Han Populations

分析了中国汉族人群中12号染色体上7个短串联重复序列(short tandem repeat,STR)基因座的多态性。采用荧光标记基因扫描对12号染色体上D12S1718、D12S1675、D12S358、D12S367、D12S1638、D12S1646和D12S1682基因座在80名陕西咸阳、榆林汉族人中的遗传多态性进行分析。结果在中国汉族人群中,D12S1718、D12S1675、D12S358、D12S367、D12S1638、D12S1646和D12S1682基因座分别检出7、10、8、8、6、9和11个等位基因,10、17、18、18、14、18和26个基因型,杂合度分别为44.28%、66.10%、78.89%、77.89%、73.69%、74.55%和82.39%。表明这7个STR基因座在中国人群中有较好的多态性,其基因型分布均符合Hard-Weinberg平衡(P>0.05)。

To analyze the genetic polymorphism of 7 STR loci （D12S1718, D12S1675, D12S358, D12S367, D12S1638, D12S1646 and D12S1682） on chromosome 12 in Shaanxi Hans. EDTA-blood specimens were collected from 80 unrelated individuals from Chinese Han population in Shaanxi province. The DNA samples were extracted and relevant fragments were amplified by polymerase chain reaction （PCR）. The PCR products were analyzed by ABI 3100 Genetic Analyzer. The number of alleles and genotypes observed at loci D12S1718, D12S1675, D12S358, D12S367, D12S1638, D12S1646 and D12S1682 were 7, 10, 8, 8, 6, 9, 11 for alleles and 10, 17, 18, 18, 14, 18 and 26 for genotypes, respectively. The heterozygosities for the 7 STR loci were 44.28%, 66. 10%, 78.89%, 77.89%, 73.69%, 74.55% and 82.39%, respectively. The distribution of allele frequencies of 7 STR loci on chromosome 12 was consistent with Hardy-Weinberg equilibrium and relatively high genetic polymorphism was observed in Shaanxi Han population.