3号染色体短臂上八个短串联重复序列位点的遗传多态性研究

目的　研究湖南汉族人群 8个位于染色体 3 p区域的短串联重复序列 (short tandem repeat,STR)位点 :D3 S12 97、D3 S14 89、D3 S12 66、D3 S1568、D3 S12 89、D3 S13 0 0、D3 S12 85和 D3 S3 681基因型及等位片段频率分布。方法　随机抽取 2 2 5名湖南汉族无关个体静脉血 ,抽提 DNA,复合 PCR技术扩增上述位点 ,ABI 3 77全自动测序仪进行基因分型。结果　共检出 91种等位基因 ,基因频率分布在 0 .0 0 2～ 0 .43 1之间 ,构成 3 12种基因型。 8个 STR位点基因型分布均符合 Hardy-Weinberg平衡 (P>0 .0 5) ,杂合度大于0 .72 9,个体识别力大于 0 .72 5,非父排除率大于 0 .596,多态信息含量大于 0 .682。民族比较结果显示 ,湖南汉族与非洲黑人及欧洲白人在大多数位点差异有显著性 (P<0 .0 0 1)。结论　研究结果对人类群体遗传学及法医学研究具有重要应用价值

Genetic polymorphism of 8 STR loci on short arm of chromosome 3

OBJECTIVE: To get the genotype and allele frequency distributions of 8 short tandem repeat (STR) loci on chromosome 3p (D3S1297, D3S1489, D3S1266, D3S1568, D3S1289, D3S1300, D3S1285 and D3S3681) in Chinese Han population in Hunan area. METHODS: Blood samples were collected from the random Han individuals in Hunan and the whole genomic DNA was extracted. STR loci were amplified by multiplex-PCR technique and genotyped by ABI 377 sequencer. RESULTS: Ninety-one alleles were detected, with frequencies ranging from 0.002 to 0.431, and these alleles constituted 312 genotypes. All the 8 loci met Hardy-Weinberg equilibrium. The statistical analysis of 8 STR loci showed the heterozygosity (H) >or= 0.729, the discrimination power (DP) >or= 0.725, the probabilities of paternity exclusion (PPE) >or= 0.596, and the polymorphic information content (PIC >or= 0.682). The result indicated that there was a significant difference between Han ethnic group and the white and the black. CONCLUSION: These results could serve as valuable data to enrich the Chinese genetic database and play an important role in Chinese population genetic and forensic medical application.