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Prenatal molecular diagnosis of Wiskott–Aldrich syndrome by direct mutation analysis

✍ Scribed by S. Giliani; M. Fiorini; P. Mella; F. Candotti; R. F. Schumacher; G. S. Wengler; F. Lalatta; A. Fasth; R. Badolato; A. G. Ugazio; A. Albertini; L. D. Notarangelo

Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
317 KB
Volume
19
Category
Article
ISSN
0197-3851

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✦ Synopsis

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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