Carrier detection in the Wiskott Aldrich syndrome.
The Wiskott-Aldrich syndrome (WAS) is an X-linked recessive disease characterized by immunodeficiency and severe thrombocytopenia in affected males, but no demonstrable clinical abnormalities in carrier females. Through analysis of the methylation patterns of X-linked genes that display restriction fragment length polymorphisms (RFLPs), we studied the pattern of X-chromosome inactivation in various cell populations from female relatives of patients with WAS. The peripheral blood T cells, granulocytes, and B cells of eight obligate WAS carriers were found to display specific patterns of X-chromosome inactivation clearly different from these of normal controls. Thus, carriers of WAS could be accurately identified using this analysis.
Fearon
E R
ER
Oncology Center Research Laboratories, Johns Hopkins University School of Medicine, Baltimore, MD 21231.
Kohn
D B
DB
Winkelstein
J A
JA
Vogelstein
B
B
Blaese
R M
RM
D001402:B-Lymphocytes / Q000502:physiology; D015139:Blotting, Southern; D004303:Dosage Compensation, Genetic; D006580:Genetic Carrier Screening / Q000379:methods; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000235:genetics; D010735:Phosphoglycerate Kinase / Q000235:genetics; D014923:Wiskott-Aldrich Syndrome / Q000175:diagnosis* / Q000235:genetics
D007041:Hypoxanthine Phosphoribosyltransferase; D010735:Phosphoglycerate Kinase