【摘要】：目的 本課題旨在開發(fā)新的21號染色體STR基因座,為各領域的應用提供更多可供選擇的STR遺傳標記;研究21號染色體上新的STR基因座在成都漢族群體中的遺傳多態(tài)性,檢驗基因座的獨立性,以期應用于法醫(yī)學個人識別和親子鑒定;用STR構建Down綜合征診斷系統(tǒng),進行初步的臨床應用研究。方法 尋找人類21號染色體DNA序列中新的STR基因座,利用Primer3軟件設計引物;應用PCR方法對基因座進行擴增,電泳分型;對挑選出的STR基因座所有的等位基因測序,構建等位基因分型標準物,并按國際法醫(yī)遺傳學會(ISFG)的推薦原則命名等位基因。調查21號染色體上新發(fā)現(xiàn)的STR基因座在成都漢族群體中的等位基因頻率和基因型分布;采用x~2檢驗,分析新發(fā)現(xiàn)的STR基因座之間的相互獨立性。構建Down綜合征診斷系統(tǒng),計算系統(tǒng)的敏感度和特異度,并運用x~2檢驗比較該方法與細胞遺傳學方法的檢驗結果;根據(jù)我們提出的公式對STR遺傳標記及診斷系統(tǒng)的效能進行定量評估。結果 通過對21號染色體DNA序列的搜索,我們發(fā)現(xiàn)了18個新的STR基因座,其中7個基因座具有5個以上的等位基因并易于準確分型,分別命名為
[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，

本文編號：2486694