X染色体上STR与SNP标记的分型检测

发布时间：2018-12-17 00:59

【摘要】： 目的:利用STR分型平台和TaqMan技术平台对8个X-STR基因座和13个X-SNP位点进行群体遗传学分析,为疑难类型的案件如祖母与孙女的亲缘关系鉴定、同父异母姐妹关系的鉴定等提供鉴定思路和解决方法。方法:采用Mentype? Argus X-8试剂盒调查8个X-STR基因座在中国汉族人群的多态性,计算其遗传学参数并应用于实际案例。选择13个均衡分布于X染色体上的SNP位点,建立TaqMan探针检测方法,探讨该方法的灵敏度、准确性、特异性和检材的适用性等,并调查13个X-SNP位点在中国汉族人群中的多态性、遗传学参数和连锁情况等。另外,对X染色体上两类遗传标记的联合应用价值进行探讨。结果:Mentype? Argus X-8试剂盒中包含的8个X-STR基因座在中国汉族人群中多态性良好,遗传学参数理想;在实际案例应用中以基因座DXS10135和DXS10101的排除率最高,分别达到85.51%和75.36%。TaqMan探针技术可以对13个X-SNP位点准确分型,灵敏度高、特异性高、对检材的适用性宽泛。13个X-SNP位点符合Hardy-Weinberge平衡,独立遗传,多态信息含量均在0.3以上,平均杂合度为0.4894。联合检测这两类遗传标记,在女性群体中的累积个体识别能力(CDPfemale)达到0.999999999999997,在男性群体中的累积个体识别能力(CDPmale)为0.999999998699;在二联体中的联合非父排除率(CPEduos)为0.999997177,在三联体中的联合非父排除率(CPEtrios)为0.999999976392。结论:Mentype? Argus X-8试剂盒中包含的8个高度多态性的X-STR基因座适用于中国汉族人群。TaqMan探针技术可以对X-SNP位点进行准确可靠的分型,13个多态性良好且独立遗传的X-SNP位点可以满足当前法医学应用要求。统计学结果表明,两类遗传标记的联合检测可为疑难亲缘鉴定案件提供丰富的遗传学信息,满足鉴定需求。
[Abstract]:Objective: to analyze 8 X-STR loci and 13 X-SNP loci by using STR typing platform and TaqMan technique platform, so as to identify the relationship between grandmother and granddaughter in cases of difficult type. The identification of half-sisterhood and so on provides identification ideas and solutions. Method: Mentype? The polymorphism of 8 X-STR loci in Chinese Han population was investigated by Argus X-8 kit. The genetic parameters were calculated and applied to practical cases. Thirteen SNP sites evenly distributed on X chromosome were selected to establish a TaqMan probe detection method. The sensitivity, accuracy, specificity and applicability of the method were discussed. The polymorphism, genetic parameters and linkage of 13 X-SNP loci in Chinese Han population were investigated. In addition, the combined application value of two kinds of genetic markers on X chromosome was discussed. Result: Mentype? The 8 X-STR loci contained in the Argus X-8 kit were highly polymorphic in Chinese Han population, and the genetic parameters were ideal. The exclusion rate of locus DXS10135 and DXS10101 was the highest in practical cases, which reached 85.51% and 75.36%.TaqMan probe technique could accurately type 13 X-SNP loci, with high sensitivity and specificity. 13 X-SNP loci accord with Hardy-Weinberge equilibrium, independent inheritance, polymorphic information content are above 0. 3, average heterozygosity is 0. 4894. The cumulative individual recognition ability (CDPfemale) in female population and male population were 0.999999999999997and 0.99999999869999, respectively. The combined non-paternal exclusion rate (CPEduos) was 0.999997177 in the diplet, and the (CPEtrios) was 0.999999976392in the triplet. Conclusion: Mentype? Eight highly polymorphic X-STR loci contained in the Argus X-8 kit are suitable for Chinese Han population. TaqMan probe technique can accurately and reliably type X-SNP loci. Thirteen X-SNP loci with good polymorphism and independent inheritance can meet the requirements of forensic application. The statistical results showed that the combined detection of the two genetic markers could provide abundant genetic information for difficult genetic identification cases and meet the needs of identification.
【学位授予单位】：苏州大学
【学位级别】：硕士
【学位授予年份】：2010
【分类号】：R394

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