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目的探讨ｈＭＬＨ１基因Ｖａｌ３８４Ａｓｐ错义突变在中国人、日本人和德国人中的存在频率及其在大肠癌发病中的可能作用。方法应用ＰＣＲ－ＳＳＣＰ和ＤＮＡ序列分析技术检测２６例中国汉族人大肠癌患者、８０例健康中国汉族人、８０例健康日本人、１０９例德国人大肠癌患者和１００例健康德国人的正常体细胞ＤＮＡ，分析ｈＭＬＨ１基因的第１２外显子。结果４／２６中国人大肠癌患者（其中发病年龄小于５０岁的患者３／９）、３／８０健康中国人、４／８０健康日本人携带ｈＭＬＨ１基因Ｖａｌ３８４Ａｓｐ（杂合型），而德国人大肠癌患者和健康人群中均未检出这一突变。比较表明，发病年龄小于５０岁的中国人大肠癌患者中ｈＭＬＨ１基因Ｖａｌ３８４Ａｓｐ检出率高于中国健康人群（Ｐ＝０．０１３）、中国人和日本人中的检出率高于德国人。结论Ｖａ１３８４Ａｓｐ是中国人、日本人ｈＭＬＨ１基因上的一个多态位点，可能在部分大肠癌的发病中起到作用，并可能影响突变基因携带者大肠癌的发病年龄。
Objective To investigate the frequency of Val384Asp missense mutation in Chinese people, Japanese, and Germans and its possible role in the pathogenesis of colorectal cancer. Methods PCR-SSCP and DNA sequence analysis were used to detect normal somatic cells in 26 Chinese Han patients with colorectal cancer, 80 healthy Han Chinese, 80 healthy Japanese, 109 German colorectal cancer patients, and 100 healthy Germans. DNA, analysis of exon 12 of the hMLH1 gene. Results 4/26 Chinese patients with colorectal cancer (patients whose age of onset was less than 50 years old, 3/9), 3/80 healthy Chinese, and 4/80 healthy Japanese individuals carried the ValMLD gene Val384Asp (heterozygous), while the German colon This mutation was not detected in cancer patients and healthy people. Comparisons showed that the detection rate of Val384Asp of hMLH1 gene in Chinese patients with colorectal cancer less than 50 years old was higher than that in Chinese healthy people (P=0.013), and the detection rate in Chinese and Japanese was higher than in German. Conclusion Va1384Asp is a polymorphic site in Chinese and Japanese hMLH1 genes, which may play a role in the pathogenesis of some colorectal cancers and may affect the age of onset of colorectal cancer in the carriers of the mutated genes.