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浙江畲族和汉族人群六个短串联重复序列位点遗传多态性的研究 被引量:12

Polymorphisms of six short tandem repeat loci in Zhejiang She ethnic population and Zhejiang Hans of China
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摘要 目的 了解浙江畲族和汉族人群 D3S135 8、D16 S5 39、TH0 1、TPOX、CSF1PO、D7S82 0 6个短串联重复序列 ( short tandem repeat,STR)位点遗传多态性特征。方法 随机抽取 10 8名浙江景宁畲族和10 2名浙江汉族无血缘关系个体的静脉血 ,应用 Amp FιSTR Cofiler试剂盒扩增 6个 STR位点 ,PCR产物经ABI Prism377序列分析仪电泳后 ,用基因扫描软件进行分析。结果 畲族和汉族人群 6个 STR位点均符合Hardy- Weinberg平衡 ,畲族人群 D3S135 8、D16 S5 39、TH0 1、TPOX、CSF1PO、D7S82 0位点杂合度分别为0 .80 2 8,0 .914 8,0 .75 2 2 ,0 .6 72 8,0 .912 3,0 .8338,期望排除率分别为 0 .4 0 6 7,0 .6 0 5 7,0 .4 4 37,0 .32 0 0 ,0 .5 2 5 0 ,0 .5 35 8,个人识别率分别为 0 .6 6 90 ,0 .784 1,0 .6 4 4 7,0 .5 382 ,0 .72 98,0 .72 96。累积个人识别率为0 .9991,累积期望排除率为 0 .980 5 ,累积多态信息含量是 0 .9988。在 D3S135 8、D16 S5 39、TPOX位点畲族人群与汉族人群之间存在显著差异。结论 浙江畲族人群有其自身的 STR等位基因分布特征。所得到的数据可为法医个人识别。 Objective: To investigate genetic polymorphism of six short tandem repeat (STR) loci (D3S1358, D16S539, TH01, TPOX, CSF1PO, D7S820) in Zhejiang She ethnic population and Han population. Methods: By use of AmpFeSTR Cofiler kit, 6 STR loci in 108 She samples and 102 Han samples were amplified. The PCR products were elctrophoresed by ABI Prism 377 sequencer; the data were analyzed by Genescan software. Results: All genotype frequencies of the 6 STR loci in She and Han ethnic groups met Hardy-Weinberg equilibrium. In the She population, the heterozygosities (H) in D3S1358, D16S539, TH01, TPOX, CSF1PO and D7S820 were 0. 8028, 0. 9148, 0. 7522, 0. 6728, 0. 9123, 0. 8338, the exclusion of paternity (EP) were 0. 4067, 0. 6057, 0. 4437, 0. 3200, 0. 5250, 0. 5358, discrimination power (DP) were 0. 6690, 0. 7841, 0. 6447, 0. 5382, 0. 7298, 0. 7296. The combined DP, PE and polymorphism information content were 0. 9991, 0. 9805, 0. 9988 respectively. There were significant differences at D3S1358, D16S539 and TPOX loci, compared with Hans. Conclusion: She population has its own STR allele distribution characteristic. The above data obtained from She population can be used not only in genetic researches and population investigation, but also in human identity and paternity testing.
机构地区 浙江省血液中心
出处 《中华医学遗传学杂志》 EI CAS CSCD 2003年第3期250-252,共3页 Chinese Journal of Medical Genetics
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