CAJ | 학술논문

目的观察MLH1基因415位点G→C突变在我国汉族结肠癌患者及人群中的分布,探讨此突变与散发结肠癌相关性.方法收集97例结肠癌患者,138名普通人群,采用聚合酶链反应(Pea)-限制性长度片段多态性分析法检测外周血MLH1415位点基因多念性.采用逆转录(RT)-PCR检测各基因型结肠癌患者正常结肠黏膜的MLH1mRNA表达.结果结肠癌患者MLH1基因415位点C/C基因型频率明显高于普通人群,P＜0.05;OR=5.29,95% CI:1.07～26.04.各基因型结肠癌患者正常结肠黏膜的MLH1 mRNA表达差异无统计学意义(F=1.31,P＞0.42).结论错配修复基因MLH1 415位点G→C突变是我国散发结肠癌的遗传易感因素,但未发现此突变影响MLH1 mRNA的表达.
목적 관찰MLH1기인415위점G→C돌변재아국한족결장암환자급인군중적분포,탐토차돌변여산발결장암상관성.방법 수집97례결장암환자,138명보통인군,채용취합매련반응(Pea)-한제성장도편단다태성분석법검측외주혈MLH1415위점기인다념성.채용역전록(RT)-PCR검측각기인형결장암환자정상결장점막적MLH1mRNA표체.결과 결장암환자MLH1기인415위점C/C기인형빈솔명현고우보통인군,P＜0.05;OR=5.29,95% CI:1.07～26.04.각기인형결장암환자정상결장점막적MLH1 mRNA표체차이무통계학의의(F=1.31,P＞0.42).결론 착배수복기인MLH1 415위점G→C돌변시아국산발결장암적유전역감인소,단미발현차돌변영향MLH1 mRNA적표체.
Objective To study the possible etiological role of MLH1 gene 415 locus G→C mntation in sporadic CRC patients from China.Methods From March 2005 to May 2008,97 cases of sporadic CRC and 138 normal people as controls were collected from Hubei province cancer hospital and Renmin hospital of Wuhan University.Genomic DNA was extracted from peripheral blood of normal people and CRC patients.Gene mutation Was analyzed by PCR-RFLP.And MLHl mRNA expression of colorectal mucosa in different genotypes of CRC patients Was detected by RT-PCR.Resuits The frequency of MLH1 gene C/C genotype was significantly higher in sporadic CRC patients than that in controls,P＜0.05;OR=5.29,95%CI:1.07-26.04.The MLH1 mRNA expression of colorectal mucosa was similar in different genotypes.F=1.31.P＞0.05.Conclnsion MLH1 gene 415 locus D→C mutation may be a genetic susceptibility to sporadic CRC in Chinese,but iS impossibly involved in down-regulation of tIle MLH1 mRNA expresmon.