923 heterogeneity of allelic exclusion in wiskott-aldrich syndrome carriers

ABSTRACT Further studies on the carriers of the Wiskott-Aldrich Syndrome were performed. Three carriers (mothers) of this X-linked disorder were found who were heterozygous for the A and B

isoenzymes of glucose-6-phosphate dehydrogenase (G6PD). Major cell types of their peripheral blood were purified; then the presence of the G6PD isoenzymes A and B was determined by an

electrophoretic assay and compared to similarly prepared cells from normal control G6PD heterozygotes. There are two different patterns of allelic exclusion in the carriers studied. The

pattern in carrier #1 shows allelic exclusion in platelets and T lymphocytes, whereas carriers #2 and #3 in addition show exclusion in erythrocytes. This finding is consistent with one of

two conclusions: either there is variable phenotypic expression of the Wiskott-Aldrich defect among carriers or, alternatively, more than one genetic defect can cause the Wiskott-Aldrich

Syndrome. ARTICLE PDF AUTHOR INFORMATION AUTHORS AND AFFILIATIONS * Yale Univ. School of Medicine, Dept. of Internal Medicine, New Haven John B Harley, W James Gealy, John M Dwyer & 

Michael R Blaese Authors * John B Harley View author publications You can also search for this author inPubMed Google Scholar * W James Gealy View author publications You can also search for

this author inPubMed Google Scholar * John M Dwyer View author publications You can also search for this author inPubMed Google Scholar * Michael R Blaese View author publications You can

also search for this author inPubMed Google Scholar RIGHTS AND PERMISSIONS Reprints and permissions ABOUT THIS ARTICLE CITE THIS ARTICLE Harley, J., Gealy, W., Dwyer, J. _et al._ 923

HETEROGENEITY OF ALLELIC EXCLUSION IN WISKOTT-ALDRICH SYNDROME CARRIERS. _Pediatr Res_ 15 (Suppl 4), 596 (1981). https://doi.org/10.1203/00006450-198104001-00948 Download citation * Issue

Date: 01 April 1981 * DOI: https://doi.org/10.1203/00006450-198104001-00948 SHARE THIS ARTICLE Anyone you share the following link with will be able to read this content: Get shareable link

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