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

Authors
Jayoussi-Assalia, R Etzioni, A Notarangelo, LD Brill-Zamir, R Kasinetz, L Kadouri, E Gershoni-Baruch, R
Citation
R. Jayoussi-assalia et al., Prenatal diagnosis of X-linked hyper-IGM syndrome by direct detection of mutation Q220X in the CD40L gene using PCR-mediated site directed mutagenesis, PRENAT DIAG, 20(10), 2000, pp. 822-823
Citations number
10
Categorie Soggetti
Reproductive Medicine","Medical Research Diagnosis & Treatment
Journal title
PRENATAL DIAGNOSIS
ISSN journal
01973851 → ACNP
Volume
20
Issue
10
Year of publication
2000
Pages
822 - 823
Database
ISI
SICI code
0197-3851(200010)20:10<822:PDOXHS>2.0.ZU;2-A
Abstract
We present the first report of prenatal diagnosis of X-linked hyper-IgM syn drome by PCR-mediated site directed mutagenesis (PSM) in a woman known to c arry 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 ks' gestation and the pregnancy was terminated. Copyright (C) 2000 John Wil ey & Sons, Ltd.