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.

De Saint Basile, G., Notarangelo, L., Bonaiti Pellie, C., Doussau, M., Parolini, O., Craig, I., Ugazio, A., Griscelli, C., Fischer, A., Wiskott-Aldrich syndrome carrier detection with the hypervariable marker M27ß, <<HUMAN GENETICS>>, 1192; 89 (n/a): 223-228. [doi:10.1007/BF00217127] [http://hdl.handle.net/10807/92655]

Wiskott-Aldrich syndrome carrier detection with the hypervariable marker M27ß

Parolini, Ornella;
1992

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.
eng
De Saint Basile, G., Notarangelo, L., Bonaiti Pellie, C., Doussau, M., Parolini, O., Craig, I., Ugazio, A., Griscelli, C., Fischer, A., Wiskott-Aldrich syndrome carrier detection with the hypervariable marker M27ß, <>, 1192; 89 (n/a): 223-228. [doi:10.1007/BF00217127] [http://hdl.handle.net/10807/92655]
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/10807/92655
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