The Etiological Role of the Single-nucleotide Polymorphism T1151A in the DNA Mismatch Repair Gene hMLH1 in Cancer of the G-I Tract.
10.3969/j.issn.1007-9610.2001.01.014
- VernacularTitle:错配修复基因hMLH1单核苷酸多态性T1151A在消化道肿瘤发病中的作用
- From:
Journal of Surgery Concepts & Practice
2001;6(1):29-32
- CountryChina
- Language:Chinese
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Abstract:
To investigate the single-nucleotide polymorphism(SNP) T1151A in the hMLH1 gene in the Chinese, Japanese and German population; the same study was carried out in Chinese colorectal can-cer(CRC) patients; the etiological role of this SNP was explored in three cancers of the G-I tract. Methods: Genomic DNA was extracted from normal tissues and the specimens were subjected to analysis of the exon 12 of the hMLH1 gene by single strand conformation polymorphism(SSCP), followed by DNA sequencing of aberrant bands in 100 healthy Chinese, 80 healthy Japanese and 100 healthy German individuals, and in 101 Chinese and 109 German CRC patients, in 79 Chinese gastric and 76 Chinese eso-phageal cancer patients, as well as in 79 and 76 first degree relatives of gastric and esophageal cancer patients respectively. Results: The alleles frequency of T1151A in the hMLH1 gene in Chinese and Japanese healthy individuals are 3% and 2.5% respectively. There was significant difference in the frequency of T1151A in hMLH1 gene between the patients with CRC younger than 45 years and healthy individuals(P<0.05); and between gastric cancer patients with family history, their first degree relatives and heal-thy controls(P<0.05 and P<0.01 respectively). No significant difference was found between esophageal cancer patients, their relatives and healthy controls. This SNP has not been found in German healthy individuals nor in German CRC patients. Conclusions: The single-nucleotide polymorphism T1151A in the hMLH1 gene might play an etiological role in part of colorectal and gastric cancers in East Asia.
