疑难亲缘鉴定中非CODIS STR和X-SNP的应用价值

发布时间：2018-12-18 01:36

【摘要】：目的:通过对26个常染色体非CODIS-STR基因座在中国汉族人群中的多态性调查和建立67个X-SNP位点的MALDI-TOF MS检测技术,为疑难亲权鉴定案件如突变案例、特殊排除案例、祖母与孙女的亲缘关系鉴定、同父异母姐妹关系的鉴定等提供鉴定思路和解决方法。方法:采用AGCU 21+1试剂盒调查20个常染色体STR基因座在中国汉族人群的多态性,计算其遗传学参数;建立多重复合扩增体系调查6个常染色体STR基因座中国汉族人群的多态性,计算其遗传学参数。并在实际案例中考察这27个STR基因座的应用价值。建立MALDI-TOF MS技术检测67个X-SNP位点的方法,并调查67个X-SNP位点在中国汉族人群的多态性、群体遗传学参数和连锁情况等。结果:26个常染色体STR基因座在中国汉族人群中具有良好的多态性和理想的遗传学参数,其在研究人群中频率分布均符合Hardy-Weinberg平衡。三联体累积非父排除率(CPE)为0.999999996,二联体累积非父排除率为0.999985,累积个人识别能力(CDP)为0.99999999999999999999999997。67个X-SNP位点中66个位点符合Hardy-Weinberge平衡,有3个位点的最低等位基因频率(MAF)低于0.1,其余64个位点均具有高信息量,并且有8组SNP存在紧密连锁,通过筛选得到56个X-SNP位点。女性群体中的CDP达到0.999999999999999999999985,在男性群体的CDP为0.999999999999977,在三联体的CPE为0.999999999987,在二联体的CPE为0.999999765。结论:26个常染色体非CODIS STR基因座具有良好的遗传多态性,能有效运用于法医学个人识别和亲子鉴定,并且能够在疑难亲权案例鉴定中发挥重要的补充作用;MALDI-TOF MS技术对X-SNP位点的分型准确可靠,通过筛选得到的56个X-SNP位点具有良好的遗传多态性,累积个体识别能力和非父排除率已能满足法医学应用的要求,可为特殊亲缘鉴定案件提供解决手段。
[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.
【学位授予单位】：苏州大学
【学位级别】：硕士
【学位授予年份】：2011
【分类号】：D919.2

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