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.

Azoospermia ; genetics ; Cystic Fibrosis Transmembrane Conductance Regulator ; genetics ; Exons ; Humans ; Male ; Male Urogenital Diseases ; genetics ; Mutation, Missense ; genetics ; Vas Deferens ; abnormalities

OBJECTIVETo assess the necessity of detecting the gene of cystic fibrosis transmembrane conductance regulator factor (CFTR) in Chinese men with congenital bilateral absence of the vas deferens (CBAVD).

METHODSWe detected the mutation of all the 27 exons of the CFTR gene in 9 patients with CBAVD by DNA sequencing, and compared the results using NCBI and Cystic Fibrosis Mutation Database.

RESULTSFour novel missense mutations/variants were found in the CFTR gene of the CBAVD patients, which were submitted and accepted in the Cystic Fibrosis Mutation Database.

CONCLUSIONThere are mutations or variants in the CFTR gene in Chinese men with CBAVD, and the mutational distribution is different from that in Westerners.

Alleles ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; Cystic Fibrosis Transmembrane Conductance Regulator ; genetics ; Exons ; Genotype ; Humans ; Male ; Male Urogenital Diseases ; genetics ; Mutation ; Vas Deferens ; abnormalities

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.

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

Adult ; Azoospermia/pathology* ; Carbonic Anhydrases/genetics* ; Congenital Abnormalities/genetics* ; Epithelial Sodium Channels/genetics* ; Gene Expression Regulation/genetics* ; Genome, Human ; Humans ; Infertility, Male/genetics* ; Male ; Male Urogenital Diseases/genetics* ; Mutation ; Vas Deferens/abnormalities*