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目的 :研究hMLH1基因错义突变Val384Asp在胃癌、食管癌发病中的作用。方法 :应用PCR SSCP和DNA测序技术 ,对 79例胃癌患者及其亲属、76例食管癌患者及其亲属、10 0例正常对照 ,进行了错配修复基因hMLH1错义突变Val384Asp筛选 ,确定其检出率。结果 :6 %的正常人携带hMLH1基因Val384Asp(杂合型 ) ;具有癌症家族史的胃癌患者及其亲属中Val384Asp的检出率与正常对照比较具有显著差异 (P <0 0 5 ;P <0 0 1)。以年龄分组比较 ,围绕中位发病年龄组的胃癌患者和低年龄的胃癌患者亲属组Val384Asp检出率较高 (P <0 0 5 )。食管癌患者及其亲属与正常对照之间无显著差异 (P >0 0 5 )。结论 :hMLH1基因Val384Asp等位基因频率在中国人中约为3% ,该错义突变可能在部分胃癌发病中起一定作用
Objective: To study the role of Val384Asp, a missense mutation in hMLH1 gene, in the pathogenesis of gastric cancer and esophageal cancer. METHODS: Using PCR-SSCP and DNA sequencing techniques, Val384Asp screening for mismatch repair gene hMLH1 missense mutations was performed in 79 patients with gastric cancer and their relatives, 76 esophageal cancer patients and their relatives, and 100 normal controls. Out rate. RESULTS: 60% of normal individuals carried the ValMLD gene Val384Asp (heterozygous); the detection rate of Val384Asp in gastric cancer patients and their relatives with a family history of cancer was significantly different from that of normal controls (P < 0.05; P <0. 0 1). By age group comparison, the detection rate of Val384Asp was higher among patients with gastric cancer in the median age group and relatives of low age gastric cancer patients (P < 0.05). There was no significant difference between patients with esophageal cancer and their relatives and normal controls (P > 0.05). Conclusion: The frequency of Val384Asp allele in hMLH1 gene is approximately 3% in Chinese. This missense mutation may play a role in the pathogenesis of some gastric cancers.