title: Does the Y chromosome have a role in Müllerian aplasia?
abstract: OBJECTIVE
  To investigate whether Y chromosomal genetic material has a role in the development of Müllerian aplasia in Finland. We have studied the TSPY1 gene and 38 additional male-specific fragments covering areas of both the long and short arms of the Y chromosome in Finnish patients with Müllerian aplasia.
  
  
  METHODS
  A retrospective study.
  
  
  METHODS
  University hospital and genetic laboratory.
  
  
  METHODS
  A sample set of 110 Finnish patients with well-diagnosed Müllerian aplasia and 20 healthy relatives (13 mothers, 4 fathers, and 3 sisters from different families) were included in the study. One hundred healthy female controls with a background of at least one normal pregnancy with delivery were used as controls.
  
  
  METHODS
  Blood samples for DNA extraction.
  
  
  METHODS
  Detection of Y chromosomal fragments by polymerase chain reaction in female patients with Müllerian aplasia.
  
  
  RESULTS
  None of the female patients showed presence of the earlier reported TSPY1 gene or 38 additional Y chromosomal markers.
  
  
  CONCLUSIONS
  Our results indicate that the studied Y-specific fragments, namely TSPY1 and 38 Y chromosomal markers, are not responsible for the syndrome in these Finnish patients with Müllerian aplasia.
authors.affiliation: Folkhälsan Institute of Genetics, University of Helsinki, Helsinki, Finland. maria.sandbacka@helsinki.fi
authors.forename: Maria
authors.initials: M
authors.lastname: Sandbacka
authors.forename: Jodie
authors.initials: J
authors.lastname: Painter
authors.forename: Minna
authors.initials: M
authors.lastname: Puhakka
authors.forename: Mervi
authors.initials: M
authors.lastname: Halttunen
authors.forename: Hannele
authors.initials: H
authors.lastname: Laivuori
authors.forename: Kristiina
authors.initials: K
authors.lastname: Aittomäki