Promoter hypermethylation and loss of heterozygosity of the APC gene in patients with familial adenomatous polyposis.
- Author:
Yuan-ying ZHANG
1
;
Sen-qing CHEN
;
Ming ZHU
;
Jin-tian LI
;
Guo-jian MA
;
Xiao-mei ZHANG
;
Jian-nong ZHOU
Author Information
- Publication Type:Journal Article
- MeSH: Adenomatous Polyposis Coli; genetics; Adenomatous Polyposis Coli Protein; genetics; Adult; Base Sequence; Colorectal Neoplasms; genetics; CpG Islands; DNA Methylation; DNA, Neoplasm; Female; Gene Expression Regulation, Neoplastic; Genes, APC; physiology; Heterozygote; Humans; Loss of Heterozygosity; Male; Polymerase Chain Reaction; Promoter Regions, Genetic; physiology
- From: Chinese Journal of Medical Genetics 2008;25(4):378-381
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate the status of hypermethylation in the promoter 1A region of the adenomatus polyposis coli (APC) gene in 3 familial adenomatous polyposis (FAP) pedigrees and to screen large fragment deletions in the APC gene.
METHODSDNA from tumor tissues and corresponding normal tissues of 5 FAP patients was modified by sodium bisulfite. Then the methylation status of the APC gene was analyzed by methylation specific-PCR (MSP) and DNA sequencing. Multiplex ligation-dependent probe amplification (MLPA) was used to screen aberrations involving large fragments from all the 15 exons and promoter region of APC gene.
RESULTSNo methylation was present in normal tissues. Hypermethylation was found in tumor tissues of one proband and her son. Loss of heterozygosity was observed in another patient from the same FAP family.
CONCLUSIONAberrant methylation of the APC promoter region provides an important mechanism for impairing APC function and may occur early during colon neoplasia progression. Loss of heterozygosity may play a role in patients with classical polyposis.
