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Carrier detection and prenatal diagnosis of X-linked agammaglobulinemia
Authors:O. Journet  A. Durandy  M. Doussau  F. Le Deist  J. Couvreur  C. Griscelli  A. Fischer  G. de Saint-Basile
Affiliation:INSERM U 132, Hǒpital des Enfants-Malades, Paris, France
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.
Keywords:X-linked agammaglobulinemia  prenatal diagnosis  carrier detection  X-inactivation  RFLP
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