Is there a role for the nuclear export factor 2 gene in male infertility?

摘要

OBJECTIVE: To determine the presence of mutations in the NXF2 gene of patients with nonobstructive azoospermia. DESIGN: Molecular analysis of male infertility. SETTING: University genetic laboratory and reproductive clinic. PATIENT(S): Sixty-five patients with Sertoli cell-only syndrome (SCOS) and 20 control men. INTERVENTION(S): Polymerase chain reaction, sequencing analysis, RNA extraction, and reverse transcription polymerase chain reaction. MAIN OUTCOME MEASURE(S): Expression of NXF2 messenger RNA and analysis of the NXF2 gene for the presence of mutations and polymorphisms. RESULT(S): Messenger RNA derived from the NXF2 gene could be amplified from normal human testicular tissue. Sequencing analysis showed the presence of two polymorphisms in the NXF2 gene. A first alteration, c.1779C>T, was observed in one man who had complete SCOS. Although it is located near an intron-exon boundary, this change probably does not affect splicing. The second alteration, c.1857A>G, was detected in 22 patients withcomplete SCOS and in 13 patients with incomplete SCOS. Also, 15 of 20 men with normal spermatogenesis had this alteration. Neither of these alterations causes a change at the amino acid level. CONCLUSION(S): No mutations were detected in the NXF2 gene, from which we concluded that there is no need to screen for mutations in the NXF2 gene in a routine IVF program.