Increased Frequency of DF508 Mutation Carriers in Men with Non-obstructive Azoospermia

Overview

One hundred randomly selected couples with severe reproductive disorders were examined for the 18 mostfrequent CFTR mutations reported in 86.1 % Czech cystic fibrosis patients. Only mutation DF508 was disclosed.Our results indicate an increased frequency of this mutation in examined males (8 %), whereas DF508 in femalesis not increased (1%). The frequency of allele „5T“ of intron 8 polymorphism in males and females does not differsignificantly (8%, 6%) and corresponds to the European carrier - frequency. A statistically increased frequencyof mutation DF508 was revealed in males affected with azoospermia or severe oligospermia with sperm counts lessthan 1 x 10 6 /ml without the presence of CAVD only. An increased frequency of mutation DF508 in examined maleshaving a sperm count higher than 1 x 10 6 /ml was not found. The detection of CFTR mutations is recommendednot only in males with CAVD but also in males with non-obstructive azoospermia or severe oligospermia withsperm counts less than 1 x 10 6 /ml. The disclosure of the CFTR mutation in male indicates molecular geneticexamination of his female partner, in order to prevent cystic fibrosis in their child in case of successful assistedreproduction. The results of our study support the hypothesis, that the CFTR gene is involved the development ofthe vas deferens and in the process of spermatogenesis as well in.

Key words:
CFTR mutation gene, severe reproductive disorders, azoospermia, oligospermia