Pedigree analysis and gene mutation inspection of Lynch syndrome in Hui nationality
XIE Peng
REN Jingli
WANG Wenjie
HU Jian′en
HU Guiming
WU Huifang
NIU Haiou
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.
Keywords：Lynch syndromecolorectal neoplasmsDNA mismatch repairmicrosatellite instabilityHui nationality
Publication Date：2016-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：3( 16-18 )