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PubMed · 4938581

Edgar Allen.

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A W Diddle. 1971. Edgar Allen.. https://doi.org/10.1097/00006250-197110000-00021

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

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.

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