hMLH1基因Val384Asp的病因学作用及对大肠癌发病年龄的影响  

The Etiological Role of Va1384Asp in hMLH1 Gene and Its Effect on Pathogenic Age of Colorectal Cancer

作　　者：周建农[1] 王亚平[1] 李金田[1] 李忠佑[1] 王建东[1] 

机构地区：[1]江苏省肿瘤防治研究所,南京市210009

出　　处：《中国肿瘤临床》2000年第5期336-339,共4页Chinese Journal of Clinical Oncology

基　　金：江苏省卫生厅重点科研基金!资助(H980 5)

摘　　要：目的 :探讨hMLH1基因错义突变Val384Asp在大肠癌发病中的作用。方法 :取 10 1例大肠癌患者、10 0例正常对照的血细胞或正常大肠组织样本 ,提取基因组DNA ,PCR -SSCP和DNA测序技术分析hMLH1基因第12外显子 ,检测hMLH1基因错义突变Val384Asp。结果 :<45岁的大肠癌患者中hMLH1基因Val384Asp的检出率明显高于同龄对照组 (P <0 0 5 ) ,其中 35～ 44岁年龄组的大肠癌患者与正常对照比较 ,P <0 0 1。结论 :hMLH1基因Val384Asp将影响大肠癌的发病年龄 ,它的存在可能是中国人大肠癌发病年龄较欧美人群提前的原因之一。Objective: To investigae the etiological role of Va1384Asp in hMLH1 gene in the pathogenesis of colorectal cancer (CRC) Methods: Genomic DNA extracted from normal colon tissue or peripheral blood were subjected to the analysis of Va1384Asp in exon 12 of the hMLH1 gene by PCR-SSCP followed by DNA sequence of variant bands in 101 colorectal cancer patients and in 100 healthy control individuals Results: Chi-square test showed that there was a significant difference in the frequency of Va1384Asp in hNLH1 gene between the patients with CRC at young age (< 45 years old) and the control individuals of same age ( P< 0 05) The highest frequency of Va1384Asp in hMLH1 gene has been found in the group of 35～44 years CRC patients Very significant difference appeared as compared with healthy individuals ( P< 0 01) Conclusion: Va1384Asp in hMLH1 gene has a potential effect on pathogenic age of CRC patients It may be one of the reasons why the CRC onset in Chinese is younger than that in white persons

关 键 词：HMLH1基因 错义突变 Val384Asp 大肠癌 发病年龄 

分 类 号：R735.3[医药卫生—肿瘤]