THE FIRST ANALYSIS OF EXON-1 (THE TRANSACTIVATION DOMAIN) OF THE ANDROGEN RECEPTOR GENE IN INFERTILE MEN WITH OLIGOSPERMIA OR AZOOSPERMIA

Objective: To examine the role of the androgen receptor (AR) gene in s permatogenesis by evaluating infertile men with idiopathic oligospermi a or azoospermia, with special emphasis on the transactivation domain (exon 1) of AR gene because it has not been studied in this population previously. Study Design: A molecular study of the AR gene. Deoxyribo nucleic acid samples were screened for possible AR gene mutations usin g polymerase chain reactions (PCR). Setting: The offices and laborator ies of the Medical College of Georgia. Participants: Infertile men wit h oligospermia and an otherwise negative laboratory evaluation. Contro ls consisted of healthy fertile men. Main Outcome Measures: Each exon (2 to 8) and each of five overlapping exon segments for exon 1 of the AR gene was amplified using PCR for each participant's DNA sample. The PCR products were evaluated by size using electrophoresis and a DNA s ize marker. Results: Sixteen idiopathic oligospermic or azoospermic me n entered the study. All seven exons and the five overlapping segments of exon 1 were amplified and were of the appropriate size on electrop horesis when compared with controls, the DNA size marker, and the exon sequence. Conclusions: Preliminary protein studies on AR suggested th at up to 40% of infertile men may have AR abnormalities. Since the ava ilability of molecular analysis, no studies to date have evaluated the transcriptional activation domain (exon 1) of the AR gene in this pop ulation of infertile men. Our study found no gross AR mutations in the individuals studied. These results emphasize the importance of furthe r studies needed to understand the regulation of spermatogensis.