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.


METHODS
Controlled clinical study.


METHODS
Healthy volunteers in an academic research environment.


METHODS
Sixty-two Finnish men with spermatogenic failure and 60 controls.


METHODS
ABI PRISM 377 (Applied Biosystems, Foster City, CA) automated sequencing.


METHODS
Determining the sequence around the CAG repeat of the AR gene.


RESULTS
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.


CONCLUSIONS
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.
Lund
Annastiina
A
Department of Medical Genetics, University of Turku, Turku, Finland. tinalund@hotmail.com
Juvonen
Vesa
V
Lähdetie
Jaana
J
Aittomäki
Kristiina
K
Tapanainen
Juha S
JS
Savontaus
Marja Liisa
ML
D005640:Follicle Stimulating Hormone / Q000097:blood; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D017354:Point Mutation; D011944:Receptors, Androgen / Q000235:genetics*; D015533:Transcriptional Activation; D018911:Trinucleotide Repeats
D011944:Receptors, Androgen; D005640:Follicle Stimulating Hormone