Screening for cystic fibrosis transmembrane conductance regulator gene mutations in men included in an intracytoplasmic sperm injection programme

The present study was undertaken to evaluate the frequency and nature of mu tations in the cystic fibrosis transmembrane conductance regulator (CFTR) g ene in infertile patients undergoing intracytoplasmic sperm injection. A to tal of 90 patients were screened for a panel of 10 mutations in the CFTR ge ne frequently involved in congenital absence of the vas deferens (CAVD); th e patients included 14 with azoospermia and CAVD, 39 patients with azoosper mia without CAVD (n = 39) and 37 patients with severe oligozoospermia. The length of the polymorphic polypyrimidine tract (allele 5T, 7T and 9T) in th e intron 8/exon 9 splice-acceptor site was also determined. In 10 out of 14 patients with CAVD, CFTR mutations were found; nine patients had one Delta F508 mutation and one patient had two CFTR mutations (N1303K/R117H). Allel e 5T was present in eight of these patients. In six patients, 5T was the no n-Delta F508 allele and in two patients there was no known CFTR mutation. N one of the CFTR mutations were observed in patients with azoospermia withou t CAVD or with severe oligozoospermia and the frequency of allele 5T was 3. 6% (three out of 78 alleles) and 1.35% tone out of 74 alleles) respectively . Our observation suggests that the CFTR gene is not involved in either spe rmatogenesis or in the pathology of the genital tract, except for CAVD.