• PMID: 12801573
• Gene Name: AR
• Condition: Spermatogenetic failure
• Association: A new 173A-->T (Q58L) substitution at the beginning of the CAG repeat in the transactivation-regulating domain of theandrogen receptor was found in 2 infertile Finnish men but not in 60 other infertile men or 60 controls.
• Mutation: 173A-->T (Q58L) substitution
• Population size: 122
• Population details: 122 (62 men with spermatogenetic failure, 60 controls)
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Male infertility

A novel sequence variation in the transactivation regulating domain of the androgen receptor in two infertile Finnish men

Lund A, Juvonen V, Lähdetie J, Aittomäki K, Tapanainen JS, Savontaus ML.

OBJECTIVE: To study a new sequence variant at the beginning of the CAG repeat in the exon 1 of the androgen receptor gene. DESIGN: Controlled clinical study. SETTINGS: Healthy volunteers in an academic research environment. PATIENT(S): Sixty-two Finnish men with spermatogenic failure and 60 controls. INTERVENTION(S): ABI PRISM 377 (Applied Biosystems, Foster City, CA) automated sequencing. MAIN OUTCOME MEASURE(S): Determining the sequence around the CAG repeat of the AR gene. RESULT(S): A new 173A-->T (Q58L) substitution at the beginning of the CAG repeat in the transactivation-regulating domain of the androgen receptor was found in 2 infertile Finnish men but not in 60 other infertile men or 60 controls. CONCLUSION(S): As the polyglutamine tract coded by the CAG repeat is crucial to spermatogenesis, the 173A-->T (Q58L) substitution might be the cause of infertility in these two Finnish men. FAU - Lund, Annastiina AU - Lund A AD - Department of Medical Genetics, University of Turku, Turku, Finland. tinalund@hotmail.com FAU - Juvonen, Vesa AU - Juvonen V FAU - Lähdetie, Jaana AU - Lähdetie J FAU - Aittomäki, Kristiina AU - Aittomäki K FAU - Tapanainen, Juha S AU - Tapanainen JS