Detection Of Cystic Fibrosis Transmembrane Conductance Regulator Gene △F508 Mutation In Chinese Patients With Congenital Bilateral Absence Of Vas Deferens

BACKGROUNDS The reasons of male infertility always include two factors: the abnormalities of origination and transportation of sperm. Congenital bilateral absence of the vas deferens (CBAVD) belongs to the later with obstructive azoospermia. CBAVD accounts for 1%～2% in male infertility and over 17% in obstructive azoospermia. It has been suggested that CBAVD repersents an incomplete form of cystic fibrosis(CF). Now it has been reported that CBAVD is associated with cystic fibrosis transmemberane conductance regulator (CFTR) gene mutations. Since the discovery of CFTR gene, more than 1,200 mutations have been identified. The frequency and hot spots of CFTR gene mutation vary with race and nation. Among all CFTR gene mutations, AF508, a deletion of 3bp TTT at codon 508, is the most frequent , accounting for 68% of the global cystic fibrosis (CF) chromosomes. In China studies about CFTR mutation of CBAVD patients were rare. ZENG Guo-hua and his collaborators detected CFTR mutations in 32 Chinese CBAVD patients and discovered a AF508 and a 225delC which is a 1bp deletion at position 225 in exon 2. Then JIANG Li,et al. detected 25 CBAVD patients but don't found the AF508 and 225delC mutations. Except these there were no more reports.