利用SNPlex平台对X染色体上SNP位点的分型

发布时间：2018-04-03 09:20

本文选题：法医生物学　切入点：单核苷酸多态性(SNP)　出处：《复旦大学》2009年硕士论文

【摘要】： 目的:利用SNPlex平台分型检测X染色体上的48个SNP位点,通过遗传多态性的研究,评价其法医学应用价值,为特殊类型的案件如祖母与孙女的亲缘关系鉴定、同父异母姐妹关系鉴定等提供鉴定思路和解决方法。方法:从公共信息库初步筛选得到167个X-SNP位点,再优选形成48个X-SNP位点组合,运用优化后的SNPlex技术对272份DNA样本进行分型检测,并考察方法的灵敏度;通过遗传多态性分析,评判48个X-SNP位点的法医学应用价值;用测序方法验证SNPlex分型结果的准确性。结果:通过对中国华东地区汉族272份血样进行DNA多态性研究,得到48个X-SNP位点的等位基因频率及遗传多态性参数,并通过测序的方式对分型结果进行了验证,测序结果与分型结果吻合率达99.17%。对杂合度、多态信息含量、个体识别能力以及非父排除率等遗传多态性参数的统计分析表明,本课题选择的48个X-SNP位点除rs6527549外,均具有高信息量。结论:筛选得到的X-SNP位点具有法医生物学应用价值;48个X-SNP位点的SNPlex检测方法成功率高、特异性好、准确性高、仪器兼容性好、中等位点通量和高样本通量,符合法医生物学检测需要。
[Abstract]:Objective: to detect 48 SNP loci on X chromosome by SNPlex platform typing, and to evaluate their forensic application value by genetic polymorphism analysis, and to identify the relationship between grandmother and granddaughter in special cases.The identification of half-sisterhood and so on provides identification ideas and solutions.Methods: 167 X-SNP loci were preliminarily screened from the public information base, and 48 X-SNP loci were selected to form a combination of 48 X-SNP loci. 272 DNA samples were detected by using the optimized SNPlex technique, and the sensitivity of the method was investigated.The forensic application value of 48 X-SNP loci was evaluated and the accuracy of SNPlex typing was verified by sequencing.Results: the allele frequency and genetic polymorphism parameters of 48 X-SNP loci were obtained by DNA polymorphism analysis of 272 blood samples from Han nationality in East China. The results were verified by sequencing.The results of sequencing coincided with the typing results of 99.17%.Statistical analysis of genetic polymorphism parameters such as heterozygosity, polymorphic information content, individual recognition ability and non-paternal exclusion rate showed that the 48 X-SNP loci selected in this study had high information content except rs6527549.Conclusion: the selected X-SNP loci have the value of forensic biological application, and the 48 X-SNP loci have high success rate, good specificity, high accuracy, good instrument compatibility, medium site flux and high sample throughput.Meet the needs of forensic biology test.
【学位授予单位】：复旦大学
【学位级别】：硕士
【学位授予年份】：2009
【分类号】：D919

【引证文献】