山东医药2016，Vol.56Issue(28)：16-18,3.DOI:10.3969/j.issn.1002-266X.2016.28.005
回族 Lynch 综合征一家系错配修复基因表达及突变情况分析
Pedigree analysis and gene mutation inspection of Lynch syndrome in Hui nationality
摘要
Abstract
Objective To investigate the expression and mutations of DNA mismatch repair ( MMR) of Lynch syn-drome in the members of a Chinese Hui family.Methods The propositus was male, 37 years old, the forth generation, Hui nationality, had rectal poorly differentiated adenocarcinoma.There were six generations existing ( Hui nationality), and a total of 14 patients with colorectal cancer were found including 7 living cases.The peripheral blood and tumor tissue DNA was collected from 6 cases of patients and 5 healthy controls.The microsatellite instability ( MSI ) was detected through DNA sequencing, the expression of MMR protein was measured using immunohistochemistry, and MMR gene muta-tions was detected by PCR amplification.Results The MSI detection of tumor tissues in the family members demonstrated MSI-H.The immunohistochemistry showed that MLH1 protein was negative.Two new missense mutation sites ( c.264G>T and c.265G>T) in the first exon of MLH1 gene were found in 6 patients and 1 normal individual, and c.264G>T mu-tation led to early termination of MLH1 protein translation on this site.Conclusion There is MLH1 mutation in Hui family with Lynch syndrome, that is the missense muntation site c.264G>T in the first exon of MLH1 gene.关键词
Lynch综合征/结直肠肿瘤/错配修复基因/微卫星不稳定性/回族Key words
Lynch syndrome/colorectal neoplasms/DNA mismatch repair/microsatellite instability/Hui nationality分类
医药卫生引用本文复制引用
解澎,任景丽,汪文杰,虎建恩,胡桂明,吴会芳,牛海鸥..回族 Lynch 综合征一家系错配修复基因表达及突变情况分析[J].山东医药,2016,56(28):16-18,3.基金项目
河南省医学科技攻关计划项目（201503099）。 （）
