Vroege diagnostiek bij geslachtsgebonden agammaglobulinemie

– The genetic transmission of X-linked agammaglobulinaemia can be determined with high probability using restriction fragment length polymorphisms (RFLP) in linkage with the XLA gene.

In a family known to be at risk for XLA in male offspring RFLP analysis demonstrated that the mother was an XLA carrier and her newborn son was affected. The latter diagnosis was confirmed by immunological deficiencies developing a few months later. Prenatal diagnosis (chorionic villus samples), carrier detection and presymptomatic diagnosis (in the newborn period) become possible for XLA using informative RFLPs on the X-chromosome.