Περίληψη:
Congenital bilateral absence of the vas deferens (CBAVD) found in
otherwise healthy infertile males, is associated with a high incidence
of mutated cystic fibrosis transmembrane conductance regulator (CFTR)
alleles, and is considered a genital form of cystic fibrosis (CF). The
CF gene may also be involved in the aetiology of male infertility in
cases other than CBAVD. The present study was undertaken to test the
involvment of CFTR gene mutations in 14 CBAVD males and additionally in
cases of male infertility caused by obstructive azoospermia (n = 10) and
severe oligozoospermia (n = 3). The entire coding region of the CFTR
gene was analysed using denaturing gradient gel electrophoresis (DGGE).
The three allele (5T, 7T, 9T) polymorphic tract of thymidines in intron
8 (IVS8-polyT) of which the 5T allele acts as a mild mutation, causing
reduced levels of normal CFTR mRNA due to deletion of exon 9, was also
analysed. Of the 14 CBAVD cases, four (28.6%) were found to have
mutations in both copies of the CFTR gene, six (42.8%) had one CFTR
mutation, and in the remaining four (28.6%) no CFTR mutations were
found. Of the 10 cases with obstructive azoospermia, three (30%) had
one CFTR mutation and in the remaining seven (70%) no mutations were
found. None of the three severe oligozoospermia cases carried a CFTR
mutation. The frequency of the IVS8(5T) allele was 14.3% (4/28) for the
CBAVD cases and 5% (1/20) for the obstructive azoospermia cases, none
of the severe oligozoospermia males carried the IVS8-5(5T) allele. The
data indicate that while there is a strong association between male
infertility caused by CBAVD and mutations in the CFTR gene, cases of
obstructive azoospermia without CBAVD also seem to be associated with
CFTR gene mutations.
Συγγραφείς:
Kanavakis, E
Tzetis, M
Antoniadi, T
Pistofidis, G and
Milligos, S
Kattamis, C
