五个miniSTR基因座遗传多态性及其在法医学上的应用

发布时间：2018-04-27 23:29

本文选题：miniSTR + 遗传多态性　；参考：《南华大学》2008年硕士论文

【摘要】： [目的]统计5个miniSTR位点D1S1677、D2S441、D4S2364、D6S1017和D9S2157在上海群体中遗传多态性及评估这些位点在法医学个体识别及亲子鉴定中的实用价值;对于DNA索引系统(combined DNA index system, CODIS)STR基因分型不理想的DNA严重降解的样品,再次进行5个miniSTR位点基因分型,比较两种方法的检测成功率,评估miniSTR技术在高度腐败检材中的运用价值。 [方法]上海无关个体血痕120例,Ampf/STR Identifiler kit试剂盒分型不理想的DNA降解检材7份,复杂亲子关系鉴定血痕3例。运用Chelex法提取DNA,进行5个miniSTR位点扩增;遗传分析仪ABI 3130 XL电泳分型,Genemapper 3.2软件进行电泳结果分析。5个基因座等位基因及基因型频率均由直接计算法得到;Hardy-weinberg平衡定律检验及不同地区华人等位基因的分布比较采用X2检验进行;法医学遗传指标非父排除率(probability of excluding paternity, PE)、个体识别力(discrimination power, DP)、多态信息态(polymorphism information content, PIC)、预期杂合度(Expected Heterozygosity, HE)等计算均运用EXCEL软件完成。 [结果] 5个位点在上海群体中均得到有效扩增,除了位点D2S441轻度偏离Hardy-weinberg平衡外,其他四个位点都符合平衡定律。D1S1677、D2S441、D4S2364、D6S1017和D9S2157位点分别获得等位基因11,12,13,14,15,16;10,11,11.3,12,13,14,15,16; 6,7,8,9,10; 8,9,10,11,12,13,14,15; 11,12,13,14,15,16,17。上海群体D1S1677、D2S441、D4S2364、D6S1017和D9S2157的父权排除率、多态信息量、个体识别力和预期杂合度分别为0.4055、0.6006、0.8162、0.7882;0.5343、0.7179、0.9025、0.8657;0.3657、0.5816、0.8094、0.8157;0.4585、0.6576、0.8618、0.8104;0.5439、0.7265、0.8892、0.8925。其中D9S2157多态信息量、杂合度在5个位点中呈现最高值,分别为0.7265和0.8925。复杂亲缘关系鉴定采用这5个miniSTR位点扩增,孩子与可疑父亲2之间显示一位点不匹配。对上海和河北,新加坡华人D1S1677基因座等位基因分布进行比较,结果显示二者之间尚不认为存在差异显著性。7例Ampf/STR Identifiler kit试剂盒分型不理想的高度降解检材运用miniSTR技术3例成功扩增,2例检材D9S2157位点扩增出现杂带,2例无扩增产物。其中1号,2号,3号,4号,5号,6号和7号检材分别检出miniSTR位点数分别为5,4,4,5,5,0,0。两种方法扩增成功率经X2检验P0.005,两组的检测效率存在差异显著性。 [结论] 1.5个miniSTR位点在上海群体中得到有效扩增,建立了上海群体5个miniSTR位点数据库。 2.5个位点多态程度较高,有高度多态性,累积PE为95. 66%;累积DP为0.99995;累积PM为5.23×10~(-5)。这些位点对中国群体遗传学研究及法医学个体识别及复杂亲子鉴定辅助作用。 3.7例DNA降解检材运用miniSTR技术5例成功扩增,2例无扩增产物。miniSTR技术能够促进法医学DNA降解检材的检测。
[Abstract]:[objective] to analyze the genetic polymorphisms of five miniSTR loci D1S1677, D2S441D4S2364D6S1017 and D9S2157 in Shanghai population and to evaluate the practical value of these loci in forensic individual identification and paternity test. In order to evaluate the application value of miniSTR technique in highly corrupt samples, five miniSTR loci genotyping were performed again for the samples whose DNA was seriously degraded by DNA index system combined DNA index system, CODIS)STR genotyping. The success rate of the two methods was compared and the application value of miniSTR technique in highly corrupt samples was evaluated. [methods] there were 7 samples of DNA degradation detected by Ampf / STR Identifiler kit kit in 120 unrelated individuals in Shanghai, and 3 cases were identified by complex parent-child relationship. Chelex method was used to extract the DNA and 5 miniSTR sites were amplified. ABI 3130 XL electrophoretic typing software Genemapper 3.2 was used to analyze the results of electrophoresis. The alleles and genotype frequencies of five loci were obtained by direct calculation. The Hardy-Weinberg equilibrium law test and the distribution ratio of Chinese alleles in different regions were obtained. Compared with X 2 test; The calculation of non-paternal exclusion rate of forensic genetic index, probability of excluding paternity, prejudice, individual discrimination, dpp, polymorphism information content, Pi, expected heterozygosity, etc., were performed by EXCEL software. [results] all the five loci were amplified effectively in Shanghai population. Except that the locus D2S441 deviated slightly from the Hardy-weinberg equilibrium, all the other four loci obeyed the equilibrium law. D1S1677, D2S441D4S2364D6S1017 and D9S2157 loci, respectively, the alleles of 1112S4S4S2364D6S1017 and D9S2157 loci were obtained, respectively. The paternity exclusion rate, polymorphic information amount, individual recognition power and expected heterozygosity of Shanghai population D1S1677 / D2S441N D4S2364N D6S1017 and D9S2157 were 0.4055 5 / 0.60065 / 0.60066 / 0.60066 / 0 / 0.73430.0.71790.90250.8657 / 0.36577 / 0.36577 / 0.36575 / 0.8040.45850.45850.45855 / 0. The amount of polymorphic information and heterozygosity of D9S2157 showed the highest values in 5 loci (0.7265 and 0.8925, respectively). The five miniSTR loci were used to amplify the complex phylogenetic analysis, and a mismatch was found between the child and the suspicious father 2. The allelic distribution of D1S1677 loci in Shanghai, Hebei and Singapore was compared. The results showed that there was no significant difference between the two groups. There were significant differences between the two groups. The highly degraded samples with unsatisfactory Ampf/STR Identifiler kit typing were successfully amplified by miniSTR technique in 3 cases. The D9S2157 sites of 2 samples were amplified successfully and 2 cases had no amplification products. The number of miniSTR sites detected in 1, 2, 3, 4, 5, 6 and 7 samples were 5? 4? 4??? The success rate of the two methods was tested by X 2 test (P 0.005), and there was significant difference in the detection efficiency between the two groups. [conclusion] 1.5 miniSTR loci were effectively amplified in Shanghai population, and 5 miniSTR loci databases were established in Shanghai population. The polymorphic degree of 2.5 loci was high, and the accumulation of PE was 95. The cumulative DP and PM were 0.99995 and 5.23 脳 10 ~ (-5) ~ (-5), respectively. These loci play an important role in Chinese population genetics, forensic individual identification and complex paternity testing. In 3. 7 cases of DNA degradation samples, 5 cases were successfully amplified by miniSTR technique. 2 cases without amplification products. MiniSTR technique could promote the detection of DNA degradation samples in forensic medicine.
【学位授予单位】：南华大学
【学位级别】：硕士
【学位授予年份】：2008
【分类号】：D919

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