title: [Analysis of specific sequences in female patients with Turner syndrome--initial study].
abstract: BACKGROUND
  DNA sequences from chromosome Y can cause gonadoblastoma development in patients with Turner syndrome (TS). Estimated risk is about 30%. The aim of the study is detection of Y-sequences of DNA level, calculation of mosaicism and its cytogenetic location. Clinical result of the study is the recommendation to gonadectomy of proved positive patients.
  
  
  RESULTS
  Samples from 110 patients were collected. The PCR method and analysis of products on agarose gel was compared with analysis of DNA fragments from quantitative fluorescent (QF) PCR on capillary electrophoresis. The loci DYZ3, AMGX/Y and SRY were used for detection. The method QF PCR was effected for DYZ3 and AMGX/Y loci. The positive cases were examined by FISH method. Five (4.5%) and 3 (2.7%) positive cases were detected in DYZ3 and SRY resp. loci by electrophoresis on agarose gel. Seventeen (15.5%) and 7 (6.4%) positive cases were detected in DYZ3 and AMGX/Y resp. by capillary electrophoresis. The estimated mosaicism ranged from 1:5 to 1:100,000.
  
  
  CONCLUSIONS
  QG PCR is the most sensitive method for diagnostics of Y-sequences. Simultaneously the incidence of Y-positive cells can be estimated. The positive cases with marker in karyotype were confirmed by FISH.
authors.affiliation: Ustav lékarské genetiky a fetální medicíny LF UP a FN, Olomouc. vodickar@fnol.cz
authors.forename: R
authors.initials: R
authors.lastname: Vodicka
authors.forename: R
authors.initials: R
authors.lastname: Vrtĕl
authors.forename: K
authors.initials: K
authors.lastname: Adamová
authors.forename: J
authors.initials: J
authors.lastname: Zapletalová
authors.forename: J
authors.initials: J
authors.lastname: Lebl
authors.forename: J
authors.initials: J
authors.lastname: Santavý
authors.forename: A
authors.initials: A
authors.lastname: Santavá
authors.forename: J
authors.initials: J
authors.lastname: Kolárová
authors.forename: D
authors.initials: D
authors.lastname: Konvalinka
authors.forename: E
authors.initials: E
authors.lastname: Krejciríková
mesh_terms: D000293:Adolescent; D000328:Adult; D005260:Female; D020022:Genetic Predisposition to Disease; D018238:Gonadoblastoma / Q000150:complications / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D014424:Turner Syndrome / Q000150:complications / Q000235:genetics*; D014998:Y Chromosome / Q000235:genetics*