13个RM Y-STR基因座荧光复合扩增体系的建立及其在湖北汉族人群中的多态性、突变率调查
发布时间：2019-05-23 04:33
【摘要】：研究背景Y-STR分型在法医学检案中已得到广泛的应用,尤其在性犯罪案件调查、父系亲缘关系鉴定及现场生物检材的群体来源推断等方面发挥了独特的作用。但由于父系遗传的特点,Y-STR在部分地区和人群多态性较差,传统的Y-STR分型试剂盒不具备足够的个人分辨力,致使其应用价值受到限制。此外,目前使用的Y-STR基因座缺乏区分来自同一父系男性个体的能力,除非发生突变,同一父系男性个体具有同样的Y-STR分型,不能从个体层面进行有效区分。近年来,RM Y-STR的提出有望解决Y-STR分辨力有限和同一父系男性个体区分的难题。目的调查13个RM Y-STR基因座在湖北汉族人群的等位基因分布和多态性,构建包含13个基因座的荧光复合扩增体系,并针对父-子样本调查汉族人群的突变率。方法1.收集252个无关男性个体血液样本分别进行13个RM Y-STR基因座检测,结合片段测序明确各基因座的重复结构并进行等位基因命名,分析各基因座的基因多态性和单倍型频率;2.根据等位基因片段长度范围和复合扩增引物设计要求,重新设计引物并标记四色荧光染料,构建13个RM Y-STR基因座荧光复合扩增体系;3.收集父-子样本,使用该复合扩增体系进行突变率调查,评估其在汉族人群中的法医学应用价值。结果1.13个RM Y-STR基因座的重复结构和等位基因命名得到确认,各基因座在汉族人群中多态性均良好,GD或HD变化范围为0.7862~0.9953;2.本研究构建的13个RM Y-STR基因座荧光复合扩增体系扩增效果良好,分型稳定,可重复性好;3.13个RM Y-STR基因座在湖北汉族人群中父-子分辨率为19.0%,9个基因座的突变率在10-2以上,与报道的突变率相近;基因座DYF403S1b、DYS526b、DYS570和DYS626突变率较低,为5~7×10-3。结论13个RM Y-STR基因座在湖北汉族人群中均具备良好的基因/单倍型多样性,且9个基因座突变率在10-2以上,说明快速突变基因座在汉族人群中的应用具有极大的潜力。通过丰富其他地区的群体数据,有针对性地调整基因座组合,可有效发挥快速突变基因座的应用价值。本研究构建的13个RM Y-STR基因座荧光复合扩增体系具备分型准确、稳定性强、灵敏度高等特点,为快速突变基因座体系在法医学中的实际应用提供了有效参考。
[Abstract]:Background Y-STR typing has been widely used in forensic cases, especially in the investigation of sexual crimes, the identification of patrilineal kinship and the inference of population sources of biological samples on the spot. However, due to the characteristics of patrilineal heredity, the polymorphism of Y-STR in some areas and populations is poor, and the traditional Y-STR typing kit does not have enough personal resolution, which limits its application value. In addition, the Y-STR loci currently used lack the ability to distinguish male individuals from the same patriline. unless there is a mutation, the same patrilineal male individuals have the same Y-STR typing and can not effectively distinguish them from the individual level. In recent years, the proposal of RM Y-STR is expected to solve the problems of limited Y-STR resolution and individual differentiation of the same patrilineal male. Objective to investigate the distribution and polymorphism of 13 RM Y-STR loci in Hubei Han population, to construct a fluorescence compound amplification system containing 13 loci, and to investigate the mutation rate of Han population according to father-son samples. Method 1. The blood samples of 252 unrelated male individuals were collected and 13 RM Y-STR loci were detected. The repeat structures of each locus were identified by fragment sequencing and the alleles were named. The gene polymorphism and haplotype frequency of each locus were analyzed. 2. According to the length range of allelic fragments and the design requirements of compound amplification primers, 13 RM Y-STR loci fluorescence compound amplification systems were constructed by redesigning primers and labeling four-color fluorescent dyes. The father-son samples were collected and the mutation rate was investigated by using the compound amplification system to evaluate the value of forensic medicine in Han population. Results 1. The repeat structure and allelic nomenclature of 13 RM Y-STR loci were confirmed. The polymorphism of each locus was good in Han population, and the range of GD or HD was 0.7862 鈮，
本文编号：2483603
[Abstract]:Background Y-STR typing has been widely used in forensic cases, especially in the investigation of sexual crimes, the identification of patrilineal kinship and the inference of population sources of biological samples on the spot. However, due to the characteristics of patrilineal heredity, the polymorphism of Y-STR in some areas and populations is poor, and the traditional Y-STR typing kit does not have enough personal resolution, which limits its application value. In addition, the Y-STR loci currently used lack the ability to distinguish male individuals from the same patriline. unless there is a mutation, the same patrilineal male individuals have the same Y-STR typing and can not effectively distinguish them from the individual level. In recent years, the proposal of RM Y-STR is expected to solve the problems of limited Y-STR resolution and individual differentiation of the same patrilineal male. Objective to investigate the distribution and polymorphism of 13 RM Y-STR loci in Hubei Han population, to construct a fluorescence compound amplification system containing 13 loci, and to investigate the mutation rate of Han population according to father-son samples. Method 1. The blood samples of 252 unrelated male individuals were collected and 13 RM Y-STR loci were detected. The repeat structures of each locus were identified by fragment sequencing and the alleles were named. The gene polymorphism and haplotype frequency of each locus were analyzed. 2. According to the length range of allelic fragments and the design requirements of compound amplification primers, 13 RM Y-STR loci fluorescence compound amplification systems were constructed by redesigning primers and labeling four-color fluorescent dyes. The father-son samples were collected and the mutation rate was investigated by using the compound amplification system to evaluate the value of forensic medicine in Han population. Results 1. The repeat structure and allelic nomenclature of 13 RM Y-STR loci were confirmed. The polymorphism of each locus was good in Han population, and the range of GD or HD was 0.7862 鈮，
本文编号：2483603
本文链接：https://www.wllwen.com/kejilunwen/jiyingongcheng/2483603.html
最近更新
教材专著
