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

Détails

ID Serval
serval:BIB_B3D98031B555
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Application of molecular analysis to genetic counseling in the Wiskott-Aldrich syndrome (WAS)
Périodique
DNA Cell Biol
Auteur(s)
Notarangelo L. D., Candotti F., Parolini O., Mantuano E., Giliani S., Lanfranchi A., Albertini A.
ISSN
1044-5498 (Print)
ISSN-L
1044-5498
Statut éditorial
Publié
Date de publication
09/1993
Volume
12
Numéro
7
Pages
645-9
Langue
anglais
Notes
Notarangelo, L D
Candotti, F
Parolini, O
Mantuano, E
Giliani, S
Lanfranchi, A
Albertini, A
eng
Research Support, Non-U.S. Gov't
DNA Cell Biol. 1993 Sep;12(7):645-9.
Résumé
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.
Mots-clé
Dosage Compensation, Genetic, Female, *Genetic Counseling, Genetic Linkage, Genetic Markers, Genetic Testing, *Heterozygote Detection, Humans, Pedigree, Wiskott-Aldrich Syndrome/*genetics/psychology, *X Chromosome
Pubmed
Création de la notice
01/11/2017 11:29
Dernière modification de la notice
03/03/2018 20:40
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