Mutation screening of MLH1 and MSH2 genes in two Chinese families with hereditary nonpolyposis colorectal cancer.
- Author:
Zhi-guo XIE
1
;
Zheng-mao HU
;
Hui-yong GONG
Author Information
- Publication Type:Journal Article
- MeSH: Adaptor Proteins, Signal Transducing; genetics; Asian Continental Ancestry Group; Colorectal Neoplasms, Hereditary Nonpolyposis; genetics; Female; Humans; Male; MutL Protein Homolog 1; MutS Homolog 2 Protein; genetics; Mutation; Nuclear Proteins; genetics; Pedigree; Polymerase Chain Reaction; Polymorphism, Restriction Fragment Length
- From: Chinese Journal of Medical Genetics 2008;25(2):221-224
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo identify the MLH1 and MSH2 gene mutation in two hereditary nonpolyposis colorectal cancer (HNPCC) families.
METHODSPolymerase chain reaction and DNA sequencing were used to screen for MLH1 and MSH2 gene mutation, and PCR-restriction fragment length polymorphism and DNA sequencing were performed to confirm the mutation.
RESULTSBy DNA sequencing, a novel mutation of c.243_244insA located at the exon 3 of MLH1 gene was detected in family A, while c.1215_1218dupCCGA mutation located at the exon 7 of MSH2 gene was detected in family B. These two mutations can cause the formation of premature proteins.
CONCLUSIONThe novel mutations c.243_244insA in MLH1 gene and c.1215_1218dupCCGA in MSH2 gene were the disease-causing mutations in the two HNPCC families.
