四个X-STR基因座荧光复合扩增体系的建立及其法医遗传学研究
发布时间：2018-08-17 13:53
【摘要】： 目的:本课题旨在建立四个x染色体特异性短串联重复基因座DXS9902、DXS6800、DXS6799和DXS7132的荧光复合扩增体系并对其进行法医学实用性研究;利用所建立的体系调查北京汉族人群中这四个基因座的遗传多念性,为DNA数据库建立和群体遗传学提供基础数据。 方法:对国内外文献中查到的8个已有报道的X-STR基因座进行筛选,从中获得四个多态性好、个人识别率高,扩增产物长度片段有区别的基因座,利用传统的复合扩增法,ABI PRISM 3100毛细管电泳进行荧光标记复合扩增的研究,并对复合扩增体系的灵敏度和准确度,不同扩增参数下复合扩增的效果进行研究及法庭科学有效性验证,并应用于实际案件;用所建立的体系对北京汉族200名无关男性个体及200名无关女性个体进行群体遗传学调查。 结果:建立了DXS9902、DXS6800、DXS6799和DXS7132的荧光标记复合扩增体系,该体系条件稳定,结果准确可靠。法庭科学有效性研究发现,应用该体系可获得准确分型结果的最小模板量为0.25 ng,对猪,牛,羊,鸡,鱼和鸭等常见动物检测均未得到特异性分型结果,同一个体血,骨骼肌,心肌,肝脏,肺脏和脑等组织分型结果一致。对实际案件中血痕、软骨,烟蒂,精斑,毛发等常见检材进行检测,均得到可靠分型结果。北京汉族人群调查得到四个基因座的基因频率(0.002—0.817);个人识别率(0.526-0.886);非父排除率(0.32-0.691);四个基因座独立性分析,未检测到连锁不平衡。 结论:DXS9902、DXS6800、DXS6799和DXS7132的荧光标记复合扩增体系,分型结果稳定可靠,具有高度准确性,高灵敏度,种属特异性、组织同一性、检材适应性;该方法简便、高效,易于掌握,便于推广。群体遗传学调查表明,该系统个体识别能力较强,非父排除率较高,基因座之间具有相对独立性,适用于法医学个人识别和亲子鉴定。
[Abstract]:Objective: to establish the fluorescent multiplex amplification system of DXS9902 and DXS6800 DXS6799 and DXS7132 for four X-chromosome specific short tandem repeat loci (DXS9902DXS6799 and DXS7132) and to study the forensic practicability of DXS9902DXS6799 and DXS6799. The genetic polymorphisms of these four loci in the Han population of Beijing were investigated by using the established system to provide basic data for the establishment of DNA database and population genetics. Methods: eight reported X-STR loci were screened in the literature at home and abroad. Four loci with good polymorphism, high personal recognition rate and different amplified product length fragments were obtained. The fluorescence labeling multiplex amplification of ABI PRISM 3100 was studied by using traditional multiplex amplification method, and the sensitivity and accuracy of the system were also studied. The effects of multiplex amplification under different amplification parameters were studied and the validity of forensic science was verified and applied to practical cases. The established system was used to investigate the population genetics of 200 unrelated male individuals and 200 unrelated female individuals of Han nationality in Beijing. Results: the fluorescence labeling multiplex amplification system of DXS9902 DXS6800 and DXS6799 and DXS7132 was established. The conditions of the system were stable and the results were accurate and reliable. Forensic scientific and effective studies showed that the minimum amount of template used to obtain accurate typing results was 0.25 ng. No specific typing results were obtained for common animals, such as pigs, cattle, sheep, chickens, fish and ducks, and the same body blood, skeletal muscle, and so on. The results of myocardial, liver, lung and brain tissue typing were consistent. The blood marks, cartilage, cigarette butts, sperm spots, hair and other common samples were detected in the actual cases, and the reliable typing results were obtained. The gene frequency of four loci (0.002-0.817), personal recognition rate (0.526-0.886), non-paternal exclusion rate (0.32-0.691) and linkage disequilibrium were not detected. Conclusion the fluorescent multiplex amplification system of DXS9902, DXS6800, DXS6799 and DXS7132 is stable and reliable, with high accuracy, high sensitivity, species-specificity, tissue identity and material adaptability. The method is simple, efficient, easy to master and easy to be popularized. Population genetic investigation showed that the system had strong individual recognition ability, high non-paternal exclusion rate and relative independence between loci, and was suitable for forensic personal identification and paternity testing.
【学位授予单位】：山西医科大学
【学位级别】：硕士
【学位授予年份】：2009
【分类号】：D919
本文编号：2187846
[Abstract]:Objective: to establish the fluorescent multiplex amplification system of DXS9902 and DXS6800 DXS6799 and DXS7132 for four X-chromosome specific short tandem repeat loci (DXS9902DXS6799 and DXS7132) and to study the forensic practicability of DXS9902DXS6799 and DXS6799. The genetic polymorphisms of these four loci in the Han population of Beijing were investigated by using the established system to provide basic data for the establishment of DNA database and population genetics. Methods: eight reported X-STR loci were screened in the literature at home and abroad. Four loci with good polymorphism, high personal recognition rate and different amplified product length fragments were obtained. The fluorescence labeling multiplex amplification of ABI PRISM 3100 was studied by using traditional multiplex amplification method, and the sensitivity and accuracy of the system were also studied. The effects of multiplex amplification under different amplification parameters were studied and the validity of forensic science was verified and applied to practical cases. The established system was used to investigate the population genetics of 200 unrelated male individuals and 200 unrelated female individuals of Han nationality in Beijing. Results: the fluorescence labeling multiplex amplification system of DXS9902 DXS6800 and DXS6799 and DXS7132 was established. The conditions of the system were stable and the results were accurate and reliable. Forensic scientific and effective studies showed that the minimum amount of template used to obtain accurate typing results was 0.25 ng. No specific typing results were obtained for common animals, such as pigs, cattle, sheep, chickens, fish and ducks, and the same body blood, skeletal muscle, and so on. The results of myocardial, liver, lung and brain tissue typing were consistent. The blood marks, cartilage, cigarette butts, sperm spots, hair and other common samples were detected in the actual cases, and the reliable typing results were obtained. The gene frequency of four loci (0.002-0.817), personal recognition rate (0.526-0.886), non-paternal exclusion rate (0.32-0.691) and linkage disequilibrium were not detected. Conclusion the fluorescent multiplex amplification system of DXS9902, DXS6800, DXS6799 and DXS7132 is stable and reliable, with high accuracy, high sensitivity, species-specificity, tissue identity and material adaptability. The method is simple, efficient, easy to master and easy to be popularized. Population genetic investigation showed that the system had strong individual recognition ability, high non-paternal exclusion rate and relative independence between loci, and was suitable for forensic personal identification and paternity testing.
【学位授予单位】：山西医科大学
【学位级别】：硕士
【学位授予年份】：2009
【分类号】：D919
【引证文献】
相关硕士学位论文 前1条
1 王磊;GATA165B12，DXS6800，GATA31E08基因座多态性及其荧光标记复合扩增体系的法医学应用研究[D];郑州大学;2010年
，本文编号：2187846
本文链接：https://www.wllwen.com/falvlunwen/fanzuizhian/2187846.html
