Detection of CFTR gene mutations in azoospermia patients with congenital unilateral absence of the vas deferens.
- Author:
Xiao-jian YANG
;
Ping YUAN
;
Xiao WU
;
Hao ZHANG
;
Qing-qing HE
;
Yan ZHANG
- Publication Type:Journal Article
- MeSH: Azoospermia; genetics; Cystic Fibrosis Transmembrane Conductance Regulator; genetics; Exons; Humans; Male; Male Urogenital Diseases; genetics; Mutation, Missense; genetics; Vas Deferens; abnormalities
- From: National Journal of Andrology 2015;21(3):229-233
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo discuss the results and significance of the detection of the CFTR gene mutation in azoospermia patients with congenital unilateral absence of the vas deferens (CUAVD).
METHODSWe collected peripheral blood samples from 6 azoospermia patients with CUAVD for detection of the CFTR gene mutations and single nucleotide polymorphisms. We analyzed the genome sequences of the CFTR gene in comparison with the website of the UCSC Genome Browser on Human Dec. 2013 Assembly.
RESULTSMissense mutation of c. 592G > C in exon 6 was found in 1 of the 6 azoospermia patients with CUAVD and splicing mutation of c. 1210-12T[5] was observed in the noncoding region before exon 10 in 2 of the patients, both with the V470 haplotype in exon 11.
CONCLUSIONMutations of the CFTR gene can be detected in azoospermia patients with CUAVD and the detection of the CFTR gene mutation is necessary for these patients.