【摘要】：目的:通過對26個常染色體非CODIS-STR基因座在中國漢族人群中的多態(tài)性調(diào)查和建立67個X-SNP位點的MALDI-TOF MS檢測技術(shù),為疑難親權(quán)鑒定案件如突變案例、特殊排除案例、祖母與孫女的親緣關(guān)系鑒定、同父異母姐妹關(guān)系的鑒定等提供鑒定思路和解決方法。 方法:采用AGCU 21+1試劑盒調(diào)查20個常染色體STR基因座在中國漢族人群的多態(tài)性,計算其遺傳學參數(shù);建立多重復合擴增體系調(diào)查6個常染色體STR基因座中國漢族人群的多態(tài)性,計算其遺傳學參數(shù)。并在實際案例中考察這27個STR基因座的應(yīng)用價值。建立MALDI-TOF MS技術(shù)檢測67個X-SNP位點的方法,并調(diào)查67個X-SNP位點在中國漢族人群的多態(tài)性、群體遺傳學參數(shù)和連鎖情況等。 結(jié)果:26個常染色體STR基因座在中國漢族人群中具有良好的多態(tài)性和理想的遺傳學參數(shù),其在研究人群中頻率分布均符合Hardy-Weinberg平衡。三聯(lián)體累積非父排除率(CPE)為0.999999996,二聯(lián)體累積非父排除率為0.999985,累積個人識別能力(CDP)為0.99999999999999999999999997。67個X-SNP位點中66個位點符合Hardy-Weinberge平衡,有3個位點的最低等位基因頻率(MAF)低于0.1,其余64個位點均具有高信息量,并且有8組SNP存在緊密連鎖,通過篩選得到56個X-SNP位點。女性群體中的CDP達到0.999999999999999999999985,在男性群體的CDP為0.999999999999977,在三聯(lián)體的CPE為0.999999999987,在二聯(lián)體的CPE為0.999999765。 結(jié)論:26個常染色體非CODIS STR基因座具有良好的遺傳多態(tài)性,能有效運用于法醫(yī)學個人識別和親子鑒定,并且能夠在疑難親權(quán)案例鑒定中發(fā)揮重要的補充作用;MALDI-TOF MS技術(shù)對X-SNP位點的分型準確可靠,通過篩選得到的56個X-SNP位點具有良好的遺傳多態(tài)性,累積個體識別能力和非父排除率已能滿足法醫(yī)學應(yīng)用的要求,可為特殊親緣鑒定案件提供解決手段。
[Abstract]:Objective: to investigate the polymorphism of 26 autosomal non-CODIS-STR loci in Chinese Han population and to establish a MALDI-TOF MS detection technique for 67 X-SNP loci. The paternity of grandmother and granddaughter and the identification of half-sister relationship between grandmothers and granddaughters, etc. Methods: the polymorphisms of 20 autosomal STR loci in Chinese Han population were investigated with AGCU 21 1 kit, and their genetic parameters were calculated. A multiplex amplification system was established to investigate the polymorphism of 6 autosomal STR loci in Chinese Han population and its genetic parameters were calculated. The application value of 27 STR loci was investigated in a practical case. To establish a MALDI-TOF MS method to detect 67 X-SNP loci, and to investigate the polymorphism, population genetic parameters and linkage of 67 X-SNP loci in Chinese Han population. Results: the 26 autosomal STR loci had good polymorphism and ideal genetic parameters in Chinese Han population. The frequency distribution of 26 autosomal STR loci in the study population was in accordance with the Hardy-Weinberg equilibrium. The cumulative non-paternal exclusion rate (CPE) was 0.999999996, the cumulative non-paternal exclusion rate was 0.9999855.The cumulative personal identification ability (CDP) was 0.999999999999999999999997.67 X-SNP sites, 66 of which were consistent with Hardy-Weinberge equilibrium. The lowest allele frequency (MAF) of three loci was lower than 0.1, the other 64 loci had high information content, and 8 groups of SNP had close linkage. 56 X-SNP loci were obtained by screening. The CDP of female population is 0.99999999999999999985. the CDP of male population is 0.9999999999999999999999999985. the CPE of triplet is 0.9999999999999787, and the CPE of two-fold is 0.999999765. Conclusion: 26 autosomal non-CODIS STR loci have good genetic polymorphisms and can be effectively used in forensic personal identification and paternity identification, and can play an important supplementary role in the identification of difficult paternity cases. The typing of X-SNP loci by MALDI-TOF MS was accurate and reliable. The 56 X-SNP loci obtained by screening had good genetic polymorphism. The cumulative individual recognition ability and non-paternal exclusion rate could meet the requirements of forensic application. It can provide a solution for special kinship identification cases.
【學位授予單位】：蘇州大學
【學位級別】：碩士
【學位授予年份】：2011
【分類號】：D919.2

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