Gene alterations and expression spectrum of SPATA33 in nonobstructive azoospermic Iranian men

Increased expression of SPATA33, during the first wave of spermatogenesis, indicates its possible association with the meiotic process. SPATA33 gene, may not impair spermatogenesis in NOA patients AbstractGenetic abnormalities have been considered a significant cause of male infertility. Increased expression of SPATA33 during the first wave of spermatogenesis indicates its possible association with the meiotic process. The aim of the current study was to investigate the genetic variations in theSPATA33 gene and its expression in patients with nonobstructive azoospermia (NOA). A total of 100 Iranian NOA men with idiopathic infertility were taken as the case group. The control group comprised 100 fertile men who had at least one child. The presence of nucleotide variations was analyzed in both groups using the standard polymerase chain reaction (PCR) sequencing technique. For mRNA and protein expression studies, testicular biopsy specimens from 27 patients were subdivided into three groups: nine obstructive azoospermic patients with hypospermatogenesis as control; nine maturation arrest (MA) and nine Sertoli cell ‐only syndromes (SCOS) as case groups. The expression of SPATA33 at both mRNA and protein levels was compared among these three groups using the reverse transcription PCR technique, the realtime‐PCR technique, and immunohistochemistry. Mutation analysis of theSPATA33 gene revealed five nucleotide changes among the population studied. All but one showed no significa...
Source: Molecular Reproduction and Development - Category: Reproduction Medicine Authors: Tags: RESEARCH ARTICLE Source Type: research