本文選題：法醫(yī)物證學(xué)　切入點(diǎn)：印記基因　出處：《中國(guó)法醫(yī)學(xué)雜志》2008年05期

【摘要】：目的建立簡(jiǎn)單、高效的DNA甲基化標(biāo)記和SNPs聯(lián)合檢測(cè)技術(shù),并用于H19基因上游高甲基化區(qū)兩組SNPs群體遺傳學(xué)檢測(cè)。方法用PCR-DGGE技術(shù)對(duì)232例武漢漢族無關(guān)個(gè)體H19基因上游啟動(dòng)子區(qū)H19FR1和H19FR2單倍型進(jìn)行檢測(cè);同時(shí)選用兩種甲基化敏感的限制酶(msRE)HpaⅡ和HhaⅠ,檢測(cè)H19FR等位基因親代來源。結(jié)果H19FR1區(qū)檢出5種單倍型、9種表型組合,其個(gè)體識(shí)別能力(DP)、多態(tài)性信息含量(PIC)和非父排除率(PE)分別為0.803、0.58和0.322;H19FR2區(qū)檢出2種單倍型、3種表型組合,其DP、PIC和PE值分別為0.626、0.37和0.162。測(cè)序結(jié)果顯示,片段H19FR1含有a7342g、a7357g和g7547a 3個(gè)SNPs與1個(gè)g7351c點(diǎn)突變;H19FR2僅含a8097g 1個(gè)SNP。msRE HpaⅡ或HhaⅠ可消化個(gè)體母源等位基因,PDP-DGGE分析僅能檢測(cè)到父源等位基因。結(jié)論P(yáng)DP-DGGE是一種簡(jiǎn)單、靈敏、高效的DNA甲基化標(biāo)記和SNPs聯(lián)合分析技術(shù),其在進(jìn)行多態(tài)性分型同時(shí)還可以確定等位基因的親代來源,具有較高的法醫(yī)學(xué)應(yīng)用價(jià)值。
[Abstract]:Objective to establish a simple and efficient combined detection technique of DNA methylation marker and SNPs, and to apply it to the detection of two groups of SNPs population genetics in the upstream hypermethylation region of H19 gene.Methods the H19FR1 and H19FR2 haplotypes in the upstream promoter region of H19 gene were detected by PCR-DGGE technique in 232 unrelated individuals of Han nationality in Wuhan, and the parents of H19FR alleles were detected by using two methylation-sensitive restriction enzymes, msREHPA 鈪，

本文編號(hào)：1710393