Prenatal molecular diagnosis of Wiskott-Aldrich syndrome by direct mutation analysis
S Giliani1, M Fiorini, P Mella
1Institute of Chemistry, Department of Paediatrics, University of Brescia, Italy. giliani@master.cci.unibs.it
Abstract:
We have performed prenatal diagnosis for Wiskott Aldrich syndrome (WAS) in two unrelated families by direct gene analysis. Using a combined non-radioactive analysis of single-strand conformational polymorphism (SSCP) and heteroduplex formation (HD), followed by automated sequencing, we studied DNA from chorionic villus sampling (CVS), allowing the diagnosis of one affected and one healthy male at the 12th week of gestation.
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