Association of CFTR gene polymorphism with congenital bilateral absence of vas deferens in ethnic Han Chinese patients.
- Author:
Li-jun LIU
1
;
Hong-gang LI
;
Xiuli GU
;
Ji-wang ZHU
;
Kai ZHAO
;
Yan-ping TANG
;
Cheng-liang XIONG
Author Information
- Publication Type:Journal Article
- MeSH: Alleles; Asian Continental Ancestry Group; genetics; Cystic Fibrosis Transmembrane Conductance Regulator; genetics; Genetic Predisposition to Disease; Humans; Introns; Male; Male Urogenital Diseases; genetics; Mutation; Polymorphism, Genetic; Vas Deferens; abnormalities
- From: Chinese Journal of Medical Genetics 2013;30(6):729-732
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo assess the association between a 5T polymorphism in intron 8 of cystic fibrosis transmembrane conductance regulator (CFTR) gene and congenital bilateral absence of vas deferens (CBAVD) in Han Chinese males.
METHODSGenomic DNA from 33 individuals with CBAVD and 99 azoospermic males with CBAVD were recruited. The 5T polymorphism was detected with PCR, TA cloned and sequenced.
RESULTSCFTR gene mutations were identified in 17 (51.5%) of patients with CBAVD. In 3 patients (17.6%), the mutations were identified on both alleles. Nine CFTR gene mutations (9.1%) were detected in 99 azoospermic patients, for whom none had mutations on both alleles.
CONCLUSIONThis study has confirmed molecular heterogeneity of CFTR mutations in CBAVD. For CBAVD patients without 5T mutations, other changes may be found in the same gene.
