Carrier detection and prenatal diagnosis of X-linked agammaglobulinemia |
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Authors: | O. Journet A. Durandy M. Doussau F. Le Deist J. Couvreur C. Griscelli A. Fischer G. de Saint-Basile |
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Affiliation: | INSERM U 132, Hǒpital des Enfants-Malades, Paris, France |
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Abstract: | ![]() We investigated the pregnant mother of a boy with X-linked agammaglobulinemia (XLA) but with no family history of immune disease. The X-inactivation pattern was found, using a methylation-sensitive probe, to be skewed in the maternal B cells but random in the polymorphonuclear cells, indicating carrier status and a 50% risk of inheritance for her male fetus. Using probes assigned to regions on either side of the XLA locus and defining RFL polymorphism, we excluded for the first time a diagnosis of XLA on a chorionic villus sample, with a risk of error <0.003. Immunological studies performed at the 19th week of gestation and 3 days after birth confirmed normality. Carrier detection based on the X-chromosome inactivation pattern, together with prenatal studies using probes close to the disease locus, thus permits prenatal diagnosis in families with isolated cases of XLA. © 1992 Wiley-Liss, Inc. |
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Keywords: | X-linked agammaglobulinemia prenatal diagnosis carrier detection X-inactivation RFLP |
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