Application of molecular analysis to genetic counseling in the Wiskott-Aldrich syndrome (WAS)

Ornella Parolini, Alberto Albertini, Luigi D. Notarangelo, Fabio Candotti, Elide Mantuano, Silvia Giliani, Arnalda Lanfranchi

Risultato della ricerca: Contributo in rivistaArticolo in rivista

3 Citazioni (Scopus)

Abstract

The Wiskott-Aldrich syndrome (WAS) is a severe X-linked, recessive disorder, with a high mortality rate at early age due to hemorrhages, infections, and lymphoid malignancies. The molecular pathogenesis of the disease is unknown. Carrier females of WAS are clinically and immunologically normal, thus precluding carrier detection by simple laboratory tests. Major advances in molecular genetics have allowed mapping of the WAS gene to the pericentromeric short arm of the X chromosome, and have made carrier detection and prenatal diagnosis feasible by segregation analysis with closely linked polymorphic DNA markers. Furthermore, the observation that carriers of WAS exhibit a unilateral inactivation of the X chromosome in hematopoietic cells has provided a new tool for carrier detection. However, critical interpretation of molecular analysis data is essential to provide accurate genetic counseling to WAS families.
Lingua originaleEnglish
pagine (da-a)645-649
Numero di pagine5
RivistaDNA and Cell Biology
Volume12
DOI
Stato di pubblicazionePubblicato - 1993

Keywords

  • Dosage Compensation, Genetic
  • Female
  • Genetic Counseling
  • Genetic Linkage
  • Genetic Markers
  • Genetic Testing
  • Heterozygote Detection
  • Humans
  • Pedigree
  • Wiskott-Aldrich Syndrome
  • X Chromosome

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