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hMLH1基因Val384Asp的病因学作用及对大肠癌发病年龄的影响 被引量:5

The Etiological Role of Va1384Asp in hMLH1 Gene and Its Effect on Pathogenic Age of Colorectal Cancer
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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
出处 《中国肿瘤临床》 CAS CSCD 北大核心 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)
关键词 HMLH1基因 错义突变 Val384Asp 大肠癌 发病年龄 hMLH1 gene Missense mutation Va1384Asp Etiology Colorectal cancer
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参考文献6

  • 1Wang Y P,Human Hered,1998年,48卷,87页
  • 2王亚平,中华医学遗传学杂志,1998年,15卷,263页
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  • 5Han H J,Human Mol Genet,1995年,4卷,237页
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