چکیده
|
Androgens play a key role in spermatogenesis, and their functions are mediated by the androgen receptor (AR). Some mutations in the AR gene have the potential to alter the primary structure and function of the protein. The aim of this study was to
investigate the AR gene mutations in a cohort of males with idiopathic azoospermia
referred to Royan Institute. Fifty‐one biopsy samples were obtained for routine clini‐
cal purposes from 15 men with hypospermatogenesis (HS), 17 patients with matu‐
ration arrest (MA) and 19 patients with Sertoli cell‐only syndrome (SCOS). The AR
cDNAs were prepared from tissue mRNAs and were sequenced. One synonymous
variant and three nonsynonymous protein coding single nucleotide polymorphisms
(nsSNPs) were detected. Protein structure prediction demonstrated that the S815I
and M746T nonsynonymous variants would affect protein structure and its normal
function. Our study suggests that mutations in the AR gene would change or disturb
the receptor's normal activity. Although these variations may influence spermato‐
genesis, it is difficult to say that they lead to a lack of spermatogenesis.
|