中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2010年
5期
579-583
,共5页
周建农%王德强%宋磊%李苏平%丁建华%马国建%陈森清%张晓梅
週建農%王德彊%宋磊%李囌平%丁建華%馬國建%陳森清%張曉梅
주건농%왕덕강%송뢰%리소평%정건화%마국건%진삼청%장효매
结肠直肠肿瘤%hMSH2%基因%多态性
結腸直腸腫瘤%hMSH2%基因%多態性
결장직장종류%hMSH2%기인%다태성
colorectal neoplasms%hMSH2 gene%polymorphism
目的 了解 hMSH2 基因IVS10+12G>A多态与大肠癌发病的关系.方法 于江苏省淮安、泰兴及金坛3个肿瘤高发地区现场收集108例同年新发大肠癌患者、180名健康人的外周血及相应的 生活饮食习惯等资料,提取外周血DNA,应用PCR-变性高效液相色谱分析和DNA序列分析技术检测 hMSH2 基因多态,采用病例对照研究方法结合流行病学资料分析.结果 jMSH2基因IVS10+12G>A多态在中国正常人群中的等位基因频率为51.7%.大肠癌患者中IVS10+12 G>A的检出率显著高于正常对照(P<0.05),并主要分布于家族性患者中(P<0.05),而散发性患者与正常对照间差异无统计学意义(P>0.05).对混杂因素的分层分析显示,IVS10+12 G>A主要存在于低龄患者中(P=0.011),并与油炸食品和腌菜两个饮食因素显著相关(P<0.01).结论 IVS10+12 G>A可能是中国人大肠癌的风险因素,特别是在家族性患者中有更显著的作用,但尚需大样本研究予以证实.
目的 瞭解 hMSH2 基因IVS10+12G>A多態與大腸癌髮病的關繫.方法 于江囌省淮安、泰興及金罈3箇腫瘤高髮地區現場收集108例同年新髮大腸癌患者、180名健康人的外週血及相應的 生活飲食習慣等資料,提取外週血DNA,應用PCR-變性高效液相色譜分析和DNA序列分析技術檢測 hMSH2 基因多態,採用病例對照研究方法結閤流行病學資料分析.結果 jMSH2基因IVS10+12G>A多態在中國正常人群中的等位基因頻率為51.7%.大腸癌患者中IVS10+12 G>A的檢齣率顯著高于正常對照(P<0.05),併主要分佈于傢族性患者中(P<0.05),而散髮性患者與正常對照間差異無統計學意義(P>0.05).對混雜因素的分層分析顯示,IVS10+12 G>A主要存在于低齡患者中(P=0.011),併與油炸食品和醃菜兩箇飲食因素顯著相關(P<0.01).結論 IVS10+12 G>A可能是中國人大腸癌的風險因素,特彆是在傢族性患者中有更顯著的作用,但尚需大樣本研究予以證實.
목적 료해 hMSH2 기인IVS10+12G>A다태여대장암발병적관계.방법 우강소성회안、태흥급금단3개종류고발지구현장수집108례동년신발대장암환자、180명건강인적외주혈급상응적 생활음식습관등자료,제취외주혈DNA,응용PCR-변성고효액상색보분석화DNA서렬분석기술검측 hMSH2 기인다태,채용병례대조연구방법결합류행병학자료분석.결과 jMSH2기인IVS10+12G>A다태재중국정상인군중적등위기인빈솔위51.7%.대장암환자중IVS10+12 G>A적검출솔현저고우정상대조(P<0.05),병주요분포우가족성환자중(P<0.05),이산발성환자여정상대조간차이무통계학의의(P>0.05).대혼잡인소적분층분석현시,IVS10+12 G>A주요존재우저령환자중(P=0.011),병여유작식품화업채량개음식인소현저상관(P<0.01).결론 IVS10+12 G>A가능시중국인대장암적풍험인소,특별시재가족성환자중유경현저적작용,단상수대양본연구여이증실.
Objective To investigate the association of the single-nucleotide polymorphism (SNP)IVS10+12 G> A in hMSH2 gene with colorectal cancer in a Chinese population of Jiangsu province.Methods A case-control study to investigate whether this SNP affects the risk of developing colorectal cancer was conducted. Subjects included 108 colorectal cancer patients and 180 healthy individuals.Peripheral white blood cell DNA was obtained from all subjects. The hMSH2 gene IVS10+12 G>A was genotyped using a PCR-based DHPLC, the existence of IVS10+12 G>A was verified by DNA sequencing.Results The allele frequency of the IVS10+12 G> A in the hMSH2 gene in the healthy individuals was 51. 7 %. There was significant difference in the frequency of the IVS10+12 G> A between patients and healthy controls (P<0.05), and between familial patients and healthy controls (P<0.05). There was also significant difference of the frequency of the IVS10+ 12 G>A between patients younger than 50 years, and patients with high consumption of fried food and pickled vegetable and healthy controls respectively (P<0.05). Conclusion This SNP may be associated with colorectal cancers in Chinese. Further investigation with larger sample size is needed.