Comparison of the sensibility and specificity between single-stranded conformation polymorphism and denaturing high-performance liquid chromatography in screening hMSH2 and hMLH1 gene mutations in hereditary non-polyposis colorectal cancer.
- Author:
Guang-hui WEI
1
;
Bo ZHAO
;
Zhen-jun WANG
Author Information
- Publication Type:Journal Article
- MeSH: Adaptor Proteins, Signal Transducing; genetics; Chromatography, High Pressure Liquid; methods; Colorectal Neoplasms, Hereditary Nonpolyposis; genetics; DNA Repair; Humans; MutL Protein Homolog 1; MutS Homolog 2 Protein; genetics; Mutation; Nuclear Proteins; genetics; Pedigree; Polymorphism, Single-Stranded Conformational; Sensitivity and Specificity; Sequence Analysis, DNA
- From: Chinese Journal of Gastrointestinal Surgery 2008;11(5):462-464
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo compare the sensibility and specificity between single-stranded conformation polymorphism (SSCP) and denaturing high-performance liquid chromatography (DHPLC) in screening hMSH2 and hMLH1 gene mutations for the diagnosis of hereditary non-polyposis colorectal cancer (HNPCC).
METHODSSeven Chinese HNPCC kindreds were collected. PCR-SSCP and DHPLC were used to screen the coding regions of hMSH2 and hMLH1 genes and the abnormal profiles were sequenced by a 377 DNA sequencer.
RESULTSSeven gene sequence variations of hMSH2 or hMLH1 were found. Among them, 4 variations were not found by SSCP, but by DHPLC. The sensibility of SSCP and DHPLC were 51.6% and 100% respectively, and the specificity were 66.6% and 93.3% respectively.
CONCLUSIONDHPLC has better sensibility and specificity in screening hMSH2 and hMLH1 gene mutation as compared to SSCP. DHPLC is an ideal method in the diagnosis of HNPCC.
