Analysis of C.3925_3929 deletional mutations of APC gene in pedigrees with familial adenomatous polyposis.
- Author:
Qingwei CHEN
1
;
Siwen LIU
;
Jifeng FENG
;
Xiaomei ZHANG
;
Senqing CHEN
;
Guojian MA
;
Ming ZHU
;
Yuanying ZHANG
;
Jun YU
Author Information
- Publication Type:Journal Article
- MeSH: Adenomatous Polyposis Coli; genetics; Adenomatous Polyposis Coli Protein; genetics; Adult; Asian Continental Ancestry Group; genetics; Base Sequence; China; Female; Humans; Male; Molecular Sequence Data; Pedigree; Sequence Deletion
- From: Chinese Journal of Medical Genetics 2015;32(4):524-528
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo analyze the characteristics of germline mutations of adenomatous polyposis coli (APC) gene in pedigrees affected with familial adenomatous polyposis (FAP).
METHODSGenomic DNA was extracted from peripheral blood samples from members of the 13 FAP pedigrees. Multiplex ligation-dependent probe amplification (MLPA) was used to detect large fragment deletions of the APC gene. Subsequently, potential mutation was screened from all exons of the APC gene with PCR amplification and direct sequencing.
RESULTSGermline mutations have been identified in 5 FAP pedigrees, which included c.3184_3187delCAAA, c.5432C>T, c.3925_3928delAAAA and c.3925_3929del AAAAG(in two pedigrees). Small deletional mutations were found primarily in the area of AAAAG tandem repeat sequences.
CONCLUSIONC.3925_3929 located in AAAAG tandem repeats is probably the hot spot for APC gene mutations, which are mostly deletional mutations, especially the 5 bp base deletion at codon 1309.
