The first analysis of exon 1 (the transactivation domain) of the androgen receptor gene in infertile men with oligospermia or azoospermia

E. E. Puscheck, M. A. Behzadian, P. G. McDonough

Research output: Contribution to journalArticle

17 Citations (Scopus)

Abstract

Objective: To examine the role of the androgen receptor (AR) gene in spermatogenesis by evaluating infertile men with idiopathic oligospermia 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. Deoxyribonucleic acid samples were screened for possible AR gene mutations using polymerase chain reactions (PCR). Setting: The offices and laboratories of the Medical College of Georgia. Participants: Infertile men with oligospermia or azoospermia and an otherwise negative laboratory evaluation. Controls 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 size marker. Results: Sixteen idiopathic oligospermic or azoospermic men entered the study. All seven exons and the five overlapping segments of exon 1 were amplified and were of the appropriate size on electrophoresis when compared with controls, the DNA size marker, and the exon sequence. Conclusions: Preliminary protein studies on AR suggested that up to 40% of infertile men may have AR abnormalities. Since the availability of molecular analysis, no studies to date have evaluated the transcriptional activation domain (exon 1) of the AR gene in this population of infertile men. Our study found no gross AR mutations in the individuals studied. These results emphasize the importance of further studies needed to understand the regulation of spermatogenesis.

Original languageEnglish (US)
Pages (from-to)1035-1038
Number of pages4
JournalFertility and sterility
Volume62
Issue number5
StatePublished - Jan 1 1994

Fingerprint

Oligospermia
Azoospermia
Androgen Receptors
Transcriptional Activation
Exons
Genes
Spermatogenesis
Genetic Markers
Polymerase Chain Reaction
Electrophoresis
Mutation
DNA
Population
Outcome Assessment (Health Care)

Keywords

  • Androgen receptor
  • infertility
  • spermatogenesis

ASJC Scopus subject areas

  • Reproductive Medicine
  • Obstetrics and Gynecology

Cite this

The first analysis of exon 1 (the transactivation domain) of the androgen receptor gene in infertile men with oligospermia or azoospermia. / Puscheck, E. E.; Behzadian, M. A.; McDonough, P. G.

In: Fertility and sterility, Vol. 62, No. 5, 01.01.1994, p. 1035-1038.

Research output: Contribution to journalArticle

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abstract = "Objective: To examine the role of the androgen receptor (AR) gene in spermatogenesis by evaluating infertile men with idiopathic oligospermia 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. Deoxyribonucleic acid samples were screened for possible AR gene mutations using polymerase chain reactions (PCR). Setting: The offices and laboratories of the Medical College of Georgia. Participants: Infertile men with oligospermia or azoospermia and an otherwise negative laboratory evaluation. Controls 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 size marker. Results: Sixteen idiopathic oligospermic or azoospermic men entered the study. All seven exons and the five overlapping segments of exon 1 were amplified and were of the appropriate size on electrophoresis when compared with controls, the DNA size marker, and the exon sequence. Conclusions: Preliminary protein studies on AR suggested that up to 40{\%} of infertile men may have AR abnormalities. Since the availability of molecular analysis, no studies to date have evaluated the transcriptional activation domain (exon 1) of the AR gene in this population of infertile men. Our study found no gross AR mutations in the individuals studied. These results emphasize the importance of further studies needed to understand the regulation of spermatogenesis.",
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