论文部分内容阅读
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 investigate the role of Val384Asp, a missense mutation in hMLH1, in the pathogenesis of colorectal cancer. Methods: A total of 101 colorectal cancer patients and 10 normal controls were collected for blood cells or normal colorectal tissues. The genomic DNA was extracted and the exon 12 of hMLH1 gene was analyzed by PCR-SSCP and DNA sequencing. The missense mutation Val384Asp . Results: The detection rate of Val384Asp in hMLH1 gene in patients with colorectal cancer <45 years old was significantly higher than that in the same age control group (P <0.05). The colorectal cancer patients in 35-44 age group had P <0 0 1. Conclusion: The hMLH1 gene Val384Asp will affect the age of onset of colorectal cancer. Its existence may be one of the reasons for the earlier onset of colorectal cancer in China than in Europe and the United States.