[Detection of the mutation of all the exons of the CFTR gene in Chinese men with congenital bilateral absence of the vas deferens].

ABSTRACT

OBJECTIVE: To 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). METHODS: We 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. RESULTS: Four 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. CONCLUSION: There are mutations or variants in the CFTR gene in Chinese men with CBAVD, and the mutational distribution is different from that in Westerners.