本文選題：miniSTR + 遺傳多態(tài)性　； 參考：《南華大學》2008年碩士論文

【摘要】： [目的]統(tǒng)計5個miniSTR位點D1S1677、D2S441、D4S2364、D6S1017和D9S2157在上海群體中遺傳多態(tài)性及評估這些位點在法醫(yī)學個體識別及親子鑒定中的實用價值;對于DNA索引系統(tǒng)(combined DNA index system, CODIS)STR基因分型不理想的DNA嚴重降解的樣品,再次進行5個miniSTR位點基因分型,比較兩種方法的檢測成功率,評估m(xù)iniSTR技術在高度腐敗檢材中的運用價值。 [方法]上海無關個體血痕120例,Ampf/STR Identifiler kit試劑盒分型不理想的DNA降解檢材7份,復雜親子關系鑒定血痕3例。運用Chelex法提取DNA,進行5個miniSTR位點擴增;遺傳分析儀ABI 3130 XL電泳分型,Genemapper 3.2軟件進行電泳結果分析。5個基因座等位基因及基因型頻率均由直接計算法得到;Hardy-weinberg平衡定律檢驗及不同地區(qū)華人等位基因的分布比較采用X2檢驗進行;法醫(yī)學遺傳指標非父排除率(probability of excluding paternity, PE)、個體識別力(discrimination power, DP)、多態(tài)信息態(tài)(polymorphism information content, PIC)、預期雜合度(Expected Heterozygosity, HE)等計算均運用EXCEL軟件完成。 [結果] 5個位點在上海群體中均得到有效擴增,除了位點D2S441輕度偏離Hardy-weinberg平衡外,其他四個位點都符合平衡定律。D1S1677、D2S441、D4S2364、D6S1017和D9S2157位點分別獲得等位基因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。上海群體D1S1677、D2S441、D4S2364、D6S1017和D9S2157的父權排除率、多態(tài)信息量、個體識別力和預期雜合度分別為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多態(tài)信息量、雜合度在5個位點中呈現最高值,分別為0.7265和0.8925。復雜親緣關系鑒定采用這5個miniSTR位點擴增,孩子與可疑父親2之間顯示一位點不匹配。對上海和河北,新加坡華人D1S1677基因座等位基因分布進行比較,結果顯示二者之間尚不認為存在差異顯著性。7例Ampf/STR Identifiler kit試劑盒分型不理想的高度降解檢材運用miniSTR技術3例成功擴增,2例檢材D9S2157位點擴增出現雜帶,2例無擴增產物。其中1號,2號,3號,4號,5號,6號和7號檢材分別檢出miniSTR位點數分別為5,4,4,5,5,0,0。兩種方法擴增成功率經X2檢驗P0.005,兩組的檢測效率存在差異顯著性。 [結論] 1.5個miniSTR位點在上海群體中得到有效擴增,建立了上海群體5個miniSTR位點數據庫。 2.5個位點多態(tài)程度較高,有高度多態(tài)性,累積PE為95. 66%;累積DP為0.99995;累積PM為5.23×10~(-5)。這些位點對中國群體遺傳學研究及法醫(yī)學個體識別及復雜親子鑒定輔助作用。 3.7例DNA降解檢材運用miniSTR技術5例成功擴增,2例無擴增產物。miniSTR技術能夠促進法醫(yī)學DNA降解檢材的檢測。
[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.
【學位授予單位】：南華大學
【學位級別】：碩士
【學位授予年份】：2008
【分類號】：D919

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相關期刊論文 前3條

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本文編號：1812810