title: Screening for mutations in the SRY gene in patients with mixed gonadal dysgenesis or with Turner syndrome and Y mosaicism.
abstract: OBJECTIVE
  To investigate the presence of mutations in the open reading frame (ORF), as well as on the 5' and 3', flanking regions of the SRY gene in patients with mixed gonadal dysgenesis (MGD) or with Turner syndrome (TS) and Y mosaicism.
  
  
  METHODS
  We studied 13 patients with MGD and three patients with TS and Y mosaicism. DNA was isolated from blood leukocytes for subsequent polymerase chain reaction (PCR) and direct sequencing were performed in the ORF, as well as from the 5' and 3' flanking regions of the SRY gene.
  
  
  RESULTS
  No mutations were present in any of the patients studied.
  
  
  CONCLUSIONS
  The absence of mutations in these regions indicated that mutations were an unlikely cause of MGD or TS with Y mosaicism and suggested that there are others genes playing an important role in sex development.
authors.affiliation: Research Unit in Developmental Biology, Centro Médico Nacional Siglo XXI, Instituto Mexicano del Seguro Social, Hospital de Pediatría, Mexico, D.F., Mexico. ipcanto@yahoo.com.mx
authors.forename: Patricia
authors.initials: P
authors.lastname: Canto
authors.forename: Norma
authors.initials: N
authors.lastname: Galicia
authors.forename: Daniela
authors.initials: D
authors.lastname: Söderlund
authors.forename: Irineo
authors.initials: I
authors.lastname: Escudero
authors.forename: Juan Pablo
authors.initials: JP
authors.lastname: Méndez
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D041322:Chromosomes, Human, Y / Q000235:genetics*; D004247:DNA / Q000097:blood; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D006060:Gonadal Dysgenesis, Mixed / Q000235:genetics*; D006801:Humans; D007223:Infant; D007962:Leukocytes / Q000737:chemistry; D008297:Male; D009030:Mosaicism / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D016366:Open Reading Frames / Q000235:genetics; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors / Q000235:genetics*; D014424:Turner Syndrome / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; C497745:SRY protein, human; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors; D004247:DNA