人类21号染色体新STR遗传标记的法医及医学遗传学研究
发布时间：2019-05-28 03:19
【摘要】：目的 本课题旨在开发新的21号染色体STR基因座,为各领域的应用提供更多可供选择的STR遗传标记;研究21号染色体上新的STR基因座在成都汉族群体中的遗传多态性,检验基因座的独立性,以期应用于法医学个人识别和亲子鉴定;用STR构建Down综合征诊断系统,进行初步的临床应用研究。方法 寻找人类21号染色体DNA序列中新的STR基因座,利用Primer3软件设计引物;应用PCR方法对基因座进行扩增,电泳分型;对挑选出的STR基因座所有的等位基因测序,构建等位基因分型标准物,并按国际法医遗传学会(ISFG)的推荐原则命名等位基因。调查21号染色体上新发现的STR基因座在成都汉族群体中的等位基因频率和基因型分布;采用x~2检验,分析新发现的STR基因座之间的相互独立性。构建Down综合征诊断系统,计算系统的敏感度和特异度,并运用x~2检验比较该方法与细胞遗传学方法的检验结果;根据我们提出的公式对STR遗传标记及诊断系统的效能进行定量评估。结果 通过对21号染色体DNA序列的搜索,我们发现了18个新的STR基因座,其中7个基因座具有5个以上的等位基因并易于准确分型,分别命名为
[Abstract]:Objective to develop a new chromosome 21 STR locus and to provide more alternative STR genetic markers for application in various fields. To study the genetic polymorphism of the new STR locus on chromosome 21 in Chengdu Han population and to test the independence of the locus in order to apply it to forensic personal identification and paternity testing. The diagnosis system of Down syndrome was constructed by STR, and the preliminary clinical application study was carried out. Methods A new STR locus in the DNA sequence of human chromosome 21 was found, primers were designed by Primer3 software, and the loci were amplified by PCR and typed by electrophoresis. All the alleles of the selected STR loci were sequenced, and the genotyping standards were constructed, and the alleles were named according to the principles recommended by the International Institute of Forensic Genetics (ISFG). The frequency and genotypic distribution of newly discovered STR loci on chromosome 21 in Chengdu Han population were investigated, and the independence of newly discovered STR loci was analyzed by x X2 test. The diagnostic system of Down syndrome was constructed, the sensitivity and specificity of the system were calculated, and the results of this method and cytogenetic method were compared by x 鈮，
本文编号：2486694
[Abstract]:Objective to develop a new chromosome 21 STR locus and to provide more alternative STR genetic markers for application in various fields. To study the genetic polymorphism of the new STR locus on chromosome 21 in Chengdu Han population and to test the independence of the locus in order to apply it to forensic personal identification and paternity testing. The diagnosis system of Down syndrome was constructed by STR, and the preliminary clinical application study was carried out. Methods A new STR locus in the DNA sequence of human chromosome 21 was found, primers were designed by Primer3 software, and the loci were amplified by PCR and typed by electrophoresis. All the alleles of the selected STR loci were sequenced, and the genotyping standards were constructed, and the alleles were named according to the principles recommended by the International Institute of Forensic Genetics (ISFG). The frequency and genotypic distribution of newly discovered STR loci on chromosome 21 in Chengdu Han population were investigated, and the independence of newly discovered STR loci was analyzed by x X2 test. The diagnostic system of Down syndrome was constructed, the sensitivity and specificity of the system were calculated, and the results of this method and cytogenetic method were compared by x 鈮，
本文编号：2486694
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