摘要
目的 获得武汉地区汉族人群D16S3391、D12S10 6 4及D5S15 0 5 3个STR基因座多态性分布和重复序列结构。方法 用PCR STR、聚丙烯酰胺凝胶电泳、银染技术 ,对 35 2名无关个体进行多态性分析 ,获得 3个基因座的群体遗传学资料 ,经测序 ,获得 3个基因座核心序列结构。结果 D16S3391、D12S10 6 4、D5S15 0 5基因座分别检出 7、 9和 11个等位基因 ,基因型 2 8、 33、 4 3种 ;3个基因座核心序列分别为TCTA、CTAT、TAGA ;观察杂合度 (H )分别为0 76 4 2、 0 7918、 0 82 39;个体鉴别机率 (DP) 0 9344、 0 92 6 6、 0 95 6 0 ;多态性信息量 (PIC) 0 7770、 0 76 0 4、0 82 35 ;非父排除率 (EP) 0 6 16 4、 0 5 95 7、 0 6 85 4 ,三基因座累积EP为 95 12 0 9% ,累积DP为 99 9788%。基因型分布均符合Hardy Weinberg平衡 ,家系调查结果证明均符合孟德尔遗传法则 ,观察 2 0 0次减数分裂未发现突变基因。结论 三基因座多态性好 ,是法医学鉴定中颇有价值的遗传标记系统。
Objective To investigate the genetic polymorphisms and core seq uence of three short tandem repeat (STR) loci, D16S3391, D12S1064 and D5S1505, i n a sample of unrelated Han individuals living in Wuhan city. Methods DNA extraction from blood samples (n=352) and ampli fication of the above three loci were carried out. By using 5 % PAG elelectropho resis and silver stain, distribution of allele frequencies of the three loci in Han population in Wuhan city was determined. Results The STR polymorphisms at all of the three loci were obs erved in Chinese Han population in Wuhan city. The sequencing analysis confirmed that the loci D16S3391 consisted of repeat of TCTA, and the core sequence of loci D12S1064 and D5S1505 were CTAT and TAGA respectively. The observed heterozy gosities of D16S3391, D12S1064 and D5S1505 were 0.7642, 0.7918 and 0.8239, res pectively. The measured values of the power of discrimination (PD) were 0.9344, 0.9266 and 0.9560 respectively. The exclusion of paternity (EP) were 0.6164, 0.5957 and 0.6854 respectively. And the polymorphism information content (PIC ) was 0.7770, 0.7604 and 0.8235, respectively. The combined power of discrimi nation and exclusion of paternity for the three loci were 99.9788 % and 95.120 9 % respectively. Deviations from Hardy-Weinberg equilibrium were not detected in genetic distribution of three loci. In 100 families (200 meioses) no mutation s were found. Conclusion The numerical values of the PD and EP are relatively high in Han population, and thus can be of significant application in populatio n genetics and forensic medicine.
出处
《华中科技大学学报（医学版）》
CAS
CSCD
北大核心
2004年第6期693-695,699,共4页
Acta Medicinae Universitatis Scientiae et Technologiae Huazhong
基金
湖北省科技攻关计划基金资助项目(No 2 0 0 2AA30 1C10 9)
