【作者】 邵伟波；

【导师】 李莉；

【作者基本信息】 苏州大学 ， 法医学， 2011， 硕士

【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。更多还原

【Abstract】 Objective: Through investigating the genetic polymorphisms 26 autosomal non-CODIS STR loci in Chinese Han Population and establishing the MALDI-TOF MS platform for 67 SNPs on X-Chromosome to provide methods for special cases such as mutational cases、special excluded cases、the judgement of relationships of grandmother to granddaughter and half-sib sisters with the same father.Methods: The polymorphisms of 21 autosomal non-CODIS STR loci in Chinese Han population were detected by the AGCU 21+1 STR kit .The genetic parameters of them were calculated; The multiplex-PCR system of the six autosomal non-CODIS STR loci was established to detect their polymorphisms in Chinese Han population, and genetic parameters of them were calculated. Application Value of 26 STR loci was investigated through applying in practical cases . Using The MALDI-TOF technique to detect the 67 SNPs on X-Chromosome, then to investigate their polymorphisms in Chinese Han population、genetic parameters and linkage information.Results :The 26 non-CODIS STR loci were polymorphic in Han population with ideal genetic parameters. Allele frequency distributions of the 26 non-CODIS STR loci did not statistically deviated from the laws of Hardy-Weinberg equilibration. The cumulative exclusionary power(CPE) of trios-testing was 0.999999996, the CPE of duo-testing was 0.99998467, and the cumulated discrimination power(CDP)was 0.99999999999999999999999997. There were 66 X-SNPs following Hardy-Weinberg equilibration in all of 67 sites, and 3 SNPs’low allele frequency were below 0.1, and 8 pairs SNPs existed close linkage. Finally we got 56 X-SNP with high information. The CDP in females reach 0.999999999999999999999985,The CDP in males reach 0.999999999999977,the CPE of trios-testing was 0.999999999987, the CPE of duo-testing was 0.999999765。Conclusion : The 26 non CODIS STR loci are highly polymorphic. They can be effectively used in personal identification and paternity testing. They can also be used as important supplementary loci in difficult paternity testing cases. The genotyping of X-SNPs by MALDI-TOF MS technology was accurate and reliable. The selected 56 X-SNPs are highly polymorphic, their CDP and CPE can been able to satisfy the requirement of forensic science, and provide new methods for special paternity testing.更多还原