Molecular screening of CFTR gene in Brazilian men with bilateral agenesis of the vas deferens.
Infertility is a common symptom of cystic fibrosis, especially in men (95% become sterile). It is caused by blockage of the vas deferens and the epididymis, which result in degeneration of the tubules. The purpose of this study was to verify the frequency of CFTR gene mutation in patients with bilateral agenesis of the vas deferens using SSCP and sequencing. The study population consisted of 40 white individuals with agenesis of the vas deferens as well as their 12 siblings without agenesis of the vas deferens. CTFR gene mutation was found in 22 of the 40 patients (55%) and it was possible to detect both mutating alleles in these 22 patients. The most frequent genotype found was ?F508/IVS8-5T. There was no genotype concordance in siblings. Our results show the importance of the investigation of CFTR mutation in patients with vas deferens agenesis.
Department of Genetics, School of Medical Sciences, State University of Campinas (UNICAMP), Campinas, Sao Paulo, Brazil. bertuzzo@fcm.unicamp.br
Carmen Sílvia
CS
Bertuzzo
Walter
W
Pinto
D000328:Adult; D001938:Brazil; D003550:Cystic Fibrosis / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D007248:Infertility, Male / Q000209:etiology; D008297:Male; D009154:Mutation; D014649:Vas Deferens / Q000002:abnormalities*
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator