河南汉族STR遗传多态性及其在同胞鉴定中的应用

发布时间：2018-02-15 12:32

本文关键词： 短串联重复序列(STR) 同胞鉴定 D2S1338基因座 D8S1132基因座遗传多态性　出处：《郑州大学》2006年硕士论文　论文类型：学位论文

【摘要】：短串联重复序列(short tandem repeats，STR)多位于非编码区，人类基因组平均每6～10kb就有1个STR基因座。STR在群体中变异大，但在家族中稳定遗传，为个人识别和亲子鉴定提供了高信息基因座的丰富来源，作为一种理想的遗传标记被广泛应用于法医学亲子鉴定、遗传病诊断和器官移植等领域。法医物证学工作中，双亲标准三联体、单亲二联体鉴定的技术已十分成熟。但当由于某种原因不能获得父、母遗传信息时，往往需要进行同胞亲缘关系鉴定。目前，同胞亲缘关系鉴定多采用线粒体DNA测序、Y染色体多态性分析(如STR分型、SNP分型)等方法，常染色体多态性分析(如STR分型、SNP分型)用于同胞亲缘关系鉴定的报道较少。线粒体DNA突变率高而且存在异质性，影响鉴定结果的准确性。Y染色体STR仅适用于男性个体之间的亲缘关系鉴定，而且Y-STR位点数量有限，有的基因座杂合度不高，其应用受到局限。由于缺少足够的资料和准确的判断依据，目前开展同胞关系鉴定的机构较少，我室也尚未能开展此项鉴定，不能满足社会的需求。本文利用常染色体STR多态性好、位点多、共显性稳定遗传等特点，分析常染色体STR分型技术在同胞亲缘关系鉴定中的应用，为建立简便易行、快捷有效的同胞关系鉴定的方法提供可靠的群体资料和判断标准，为开展此项工作奠定基础。并调查河南汉族群体中，D2S1338、D8S1132基因座的基因型频率，，获得群体遗传学数据，以期为这些基因座在法医学、遗传学方面的应用奠定基础。方法采集80对同胞个体、80对无关个体以及120名河南汉族无血缘关系个体的EDTA抗凝血样，用酚-氯仿法提取DNA，应用多重PCR扩增、聚丙烯酰胺凝胶
[Abstract]:Short tandem repeats (STRs) are mostly located in non-coding regions. On average, one STR locus per 6kb in human genome is highly variable in population, but stable in family. It provides a rich source of high information loci for personal identification and paternity testing. As an ideal genetic marker, it is widely used in forensic paternity testing, genetic disease diagnosis and organ transplantation. In forensic forensics, the technology of two-parent standard triplet and single-parent diplet identification is very mature. However, when paternal and maternal genetic information cannot be obtained for some reason, sibling kinship identification is often needed. At present, Sibling phylogenetic analysis was carried out by mitochondrial DNA sequencing and Y chromosome polymorphism analysis (such as STR typing). Autosomal polymorphism analysis (such as STR genotyping) was rarely reported for sibling genetic identification. Mitochondrial DNA mutation rate was high and heterogeneity existed. The accuracy of the identification results. Y chromosome STR is only suitable for the identification of genetic relationship among male individuals. Moreover, the number of Y-STR loci is limited, and some loci heterozygosity is not high, so its application is limited. Due to the lack of sufficient data and accurate basis of judgment, there are few institutions that carry out sibling relationship identification, and our laboratory has not been able to carry out this identification, which can not meet the needs of society. In this paper, autosomal STR polymorphism is good and there are many loci. The application of autosomal STR typing technique in sibling kinship identification was analyzed in order to provide reliable group data and criteria for establishing a simple, fast and effective sibling relationship identification method. To lay a foundation for this work, and to investigate the genotype frequency of D2S1338 / D8S1132 locus in Henan Han population, and to obtain population genetic data, so as to lay a foundation for the application of these loci in forensic medicine and genetics. Methods EDTA anticoagulant samples were collected from 80 unrelated pairs of sibling individuals and 120 unrelated individuals from Henan Han nationality. The PCR was extracted by phenol-chloroform method. Polyacrylamide gel was used to amplify the polyacrylamide gel.
【学位授予单位】：郑州大学
【学位级别】：硕士
【学位授予年份】：2006
【分类号】：R394

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