Wiskott-Aldrich Syndrome (Was) Carrier Detection By X-Chromosome Inactivation Analysis View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

1987-04

AUTHORS

Donald B Kohn, Eric R Fearon, Jerry A Winklestein, Bert Vogelstein, R Michael Blaese

ABSTRACT

WAS is an X-linked disorder characterized by immune deficiency, thrombocytopenia and eczema. Previous studies of G-6-PD isozyme expression in rare females doubly heterozygous for WAS and G-6-PD found one of two X chromosomes to be preferentially active in T cells and platelets compared to their fibroblasts. Presumably this is due to selection against cells in which the X chromosome with the WAS allele is active. We have used a new strategy that distinguishes the active and inactive X chromosomes for the detection of WAS carriers. Genomic ONA is analyzed by Southern blot to detect heterozygosity for X chromosome restriction fragment length polymorphisms (RFLP) at the PGK or HGPRT loci. For both loci, the state of methylation is different and constant between the active and inactive X chromosomes. In females heterozygous for these RFLP's the active and inactive X's can thus be distinguished with with methylation-sensitive restriction endonucleases. We have screened 32 female relatives of WAS patients; 14 were heterozygous at one of the two loci (44% potentially informative). The methylation pattern of DNA from T cells of non-carriers showed random X-inactivation. In contrast, DNA from T cells of WAS carriers showed only one of the two X chromosomes to be active. Thus, X-inactivation analysis appears to directly identify WAS carriers and does not require the rare co-occurence of G-6-PD heterozygosity. We are currently using this method to determine the cell lineages affected by the WAS gene defect. More... »

PAGES

313a

Journal

TITLE

Pediatric Research

ISSUE

S4

VOLUME

21

Identifiers

URI

http://scigraph.springernature.com/pub.10.1203/00006450-198704010-00875

DOI

http://dx.doi.org/10.1203/00006450-198704010-00875

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1031916343


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