Prenatal diagnosis of fragile X syndrome by direct detection of the dynamic mutation due to an unstable DNA sequence

Prenatal diagnosis of X-linked hyper-IGM

Prenatal diagnosis of X-linked hyper-IGM syndrome by direct detection of mutation Q220X in the CD40L gene using PCR-mediated site directed mutagenesis

✍ R. Jayoussi–Assalia; A. Etzioni; L.D. Notarangelo; R. Brill-Zamir; L. Kasinetz; 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 55 KB 👁 2 views

We present the first report of prenatal diagnosis of X-linked hyper-IgM syndrome by PCR-mediated site directed mutagenesis (PSM) in a woman known to carry the Q220X mutation in the CD40L gene. Using the simple PSM assay, the Q220X mutation was identified by chorionic villous sampling (CVS) at 11 wee