title: A novel sequence variation in the transactivation regulating domain of the androgen receptor in two infertile Finnish men.
abstract: 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.
authors.affiliation: Department of Medical Genetics, University of Turku, Turku, Finland. tinalund@hotmail.com
authors.forename: Annastiina
authors.initials: A
authors.lastname: Lund
authors.forename: Vesa
authors.initials: V
authors.lastname: Juvonen
authors.forename: Jaana
authors.initials: J
authors.lastname: Lähdetie
authors.forename: Kristiina
authors.initials: K
authors.lastname: Aittomäki
authors.forename: Juha S
authors.initials: JS
authors.lastname: Tapanainen
authors.forename: Marja Liisa
authors.initials: ML
authors.lastname: Savontaus
mesh_terms: 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
chemical_list: D011944:Receptors, Androgen; D005640:Follicle Stimulating Hormone