CAJ | 학술논문

目的探讨MLH1基因415G/C多态与我国汉族人群结肠癌发生的关系.方法收集97例散发结肠癌患者,138名正常对照,以及5个结肠癌家系的6例结肠癌患者,19名直系亲属.采用聚合酶链反应-限制性片段长度多态性分析法检测外周血MLH1基因415位点多态性.采用逆转录-聚合酶链反应检测各基因型结肠癌患者正常结肠黏膜的MLH1 mRNA表达.结果散发结肠癌患者MLH1基因415位点CC基因型频率明显高于正常对照(P=0.035,OR=5.29,95%CI:1.07～26.04).结肠癌家系中患者和直系亲属的C等位基因的频率明显高于散发患者和正常对照(P=0.003和P=0.006).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.结论 MLH1基因415G/C多态可能是我国散发结肠癌的遗传易感因素,但不是通过下调MLH1 mRNA表达而致病的.结肠癌家系中C等位基因携带者患结肠癌可能性更大.
목적 탐토MLH1기인415G/C다태여아국한족인군결장암발생적관계.방법 수집97례산발결장암환자,138명정상대조,이급5개결장암가계적6례결장암환자,19명직계친속.채용취합매련반응-한제성편단장도다태성분석법검측외주혈MLH1기인415위점다태성.채용역전록-취합매련반응검측각기인형결장암환자정상결장점막적MLH1 mRNA표체.결과 산발결장암환자MLH1기인415위점CC기인형빈솔명현고우정상대조(P=0.035,OR=5.29,95%CI:1.07～26.04).결장암가계중환자화직계친속적C등위기인적빈솔명현고우산발환자화정상대조(P=0.003화P=0.006).각기인형결장암환자정상결장점막적MLH1 mRNA표체차이무통계학의의.결론 MLH1기인415G/C다태가능시아국산발결장암적유전역감인소,단불시통과하조MLH1 mRNA표체이치병적.결장암가계중C등위기인휴대자환결장암가능성경대.
Objective To study the possible etiological role of MLH1 gene 415G/C polymorphism in sporadic Chinese colorectal cancer (CRC) patients. Methods Ninety seven sporadic CRC patients and 138 normal controls were collected from Hubei Provincial Cancer Hospital and the People's Hospital of Wuhan University. In addition, five CRC families including 6 patients and their 19 first-degree relatives were also recruited. Genomic DNA was extracted from peripheral blood samples. Gene mutation was analyzed by PCR-RFLP. MLH1 mRNA expression in colorectal mucosa was analyzed by RT-PCR. Results The frequency of MLH1 gene CC genotype was significantly higher in sporadic CRC patients than that in controls (P=0. 035, OR=5.29, 95%CI: 1.07-26.04). In the CRC families, the C allele frequency of CRC patients and their relatives was increased, compared with sporadic CRC patients and normal controls, respectively (P =0. 003 and P=0. 006). MLH1 mRNA expression of colorectal mucosa was similar in different genotypes. Conclusion MLH1 gene 415G/C polymorphism might be a risk factor to sporadic CRC in Chinese. The mutation does not affect the MLH1 mRNA expression. For first-degree relatives from CRC families, carriers of MLH1 415C allele have a high risk to CRC.