DNA-based prenatal exclusion of harlequin ichthyosis - 24/04/13
Abstract |
Harlequin ichthyosis (HI) is a severe and usually fatal congenital ichthyosis with an autosomal recessive inheritance pattern. Until the identification of ABCA12 as the causative gene, prenatal diagnosis (PND) for HI had been performed by electronmicroscopic observation of fetal skin biopsy samples. We report herein a case of DNA-based prenatal exclusion of HI. We performed PND by direct sequence analysis and restriction enzyme digestion analysis using fetal genomic DNA from amniotic fluid cells at 16 weeks’ gestation. This study demonstrates the efficacy of early DNA-based exclusion of HI.
Le texte complet de cet article est disponible en PDF.Abbreviations used : ABC, EGA, HI, PND
Plan
Supported in part by grants-in-aid from the Ministry of Education, Science, Sports, and Culture of Japan to M. Akiyama (Kiban B. 16390312 and Kiban B. 18390310). |
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Conflicts of interest: None declared. |
Vol 58 - N° 4
P. 653-656 - avril 2008 Retour au numéroBienvenue sur EM-consulte, la référence des professionnels de santé.
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