Wiskott-Aldrich syndrome carrier detection with the hypervariable marker M27β

G. de Saint Basile, L. D. Notarangelo, C. Bonaiti-Pellié, M. Doussau, O. Prolini, I. W. Craig, A. Ugazio, C. Griscelli, A. Fischer

Research output: Contribution to journalArticle

Abstract

Whole-blood cells of obligate carriers of the X-linked Wiskott-Aldrich syndrome (WAS) exhibit nonrandom inactivation of the X-chromosomes. However, because of the limited polymorphism of the probes available, the X-methylation pattern can only be determined in a restricted proportion of females. We thus analysed a large set of normal females and members of WAS families, using the recently described marker M27β, which detects the hyperpolymorphic locus DXS255. The probe was used to detect differences in methylation between the active and inactive X-chromosome, and the findings were compared with the pattern obtained using the well-documented probes from the 5′ end of the PGK and HPRT genes. All the normal females were found to use either X-chromosome randomly, and there was complete correlation between the three probes in the populations studied. Segregation analysis performed with M27β and other related markers in the WAS families was fully in accordance with the X-inactivation data. The use of M27β, for both X-inactivation and segregation analysis of WAS kindreds, provides a basis for genetic counselling in the majority of families, including those with no surviving males.

Original languageEnglish
Pages (from-to)223-228
Number of pages6
JournalHuman Genetics
Volume89
Issue number2
DOIs
Publication statusPublished - May 1992

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Wiskott-Aldrich Syndrome
X Chromosome Inactivation
X Chromosome
Methylation
Hypoxanthine Phosphoribosyltransferase
Genetic Counseling
Blood Cells
Population
Genes

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

de Saint Basile, G., Notarangelo, L. D., Bonaiti-Pellié, C., Doussau, M., Prolini, O., Craig, I. W., ... Fischer, A. (1992). Wiskott-Aldrich syndrome carrier detection with the hypervariable marker M27β. Human Genetics, 89(2), 223-228. https://doi.org/10.1007/BF00217127

Wiskott-Aldrich syndrome carrier detection with the hypervariable marker M27β. / de Saint Basile, G.; Notarangelo, L. D.; Bonaiti-Pellié, C.; Doussau, M.; Prolini, O.; Craig, I. W.; Ugazio, A.; Griscelli, C.; Fischer, A.

In: Human Genetics, Vol. 89, No. 2, 05.1992, p. 223-228.

Research output: Contribution to journalArticle

de Saint Basile, G, Notarangelo, LD, Bonaiti-Pellié, C, Doussau, M, Prolini, O, Craig, IW, Ugazio, A, Griscelli, C & Fischer, A 1992, 'Wiskott-Aldrich syndrome carrier detection with the hypervariable marker M27β', Human Genetics, vol. 89, no. 2, pp. 223-228. https://doi.org/10.1007/BF00217127
de Saint Basile G, Notarangelo LD, Bonaiti-Pellié C, Doussau M, Prolini O, Craig IW et al. Wiskott-Aldrich syndrome carrier detection with the hypervariable marker M27β. Human Genetics. 1992 May;89(2):223-228. https://doi.org/10.1007/BF00217127
de Saint Basile, G. ; Notarangelo, L. D. ; Bonaiti-Pellié, C. ; Doussau, M. ; Prolini, O. ; Craig, I. W. ; Ugazio, A. ; Griscelli, C. ; Fischer, A. / Wiskott-Aldrich syndrome carrier detection with the hypervariable marker M27β. In: Human Genetics. 1992 ; Vol. 89, No. 2. pp. 223-228.
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