Use of denaturing HPLC and automated sequencing to screen the VMD2 gene for mutations associated with Best's vitelliform macular dystrophy.

Détails

Demande d'une copieDemande d'une copie
ID Serval
serval:BIB_8AE11C597406
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
UNIL/CHUV
Titre
Use of denaturing HPLC and automated sequencing to screen the VMD2 gene for mutations associated with Best's vitelliform macular dystrophy.
Périodique
Ophthalmic Genetics
Auteur⸱e⸱s
Marchant D., Gogat K., Dureau P., Sainton K., Sternberg C., Gadin S., Dollfus H., Brasseur G., Hache J.C., Dumur V., Puech V., Munier F., Schorderet D.F., Marsac C., Menasche M., Dufier J.L., Abitbol M.
ISSN
1381-6810
Statut éditorial
Publié
Date de publication
09/2002
Peer-reviewed
Oui
Volume
23
Numéro
3
Pages
167-174
Langue
anglais
Résumé
We identified three novel VMD2 mutations in patients with Best's macular dystrophy. DHPLC analysis of the 11 VMD2 exons revealed abnormal profiles in exon 8. Direct sequencing showed that these abnormal profiles were due to monoallelic transitions and transversions. We also found three polymorphic sequence changes that have been reported previously and annotated to an online database (http://www.uni-wuerzburg.de/humangenetics/vmd2.html).
Mots-clé
Case-Control Studies, Chloride Channels, Chromatography, High Pressure Liquid/methods, DNA/analysis, DNA Mutational Analysis, Eye Proteins/genetics, Female, Humans, Macular Degeneration/genetics, Macular Degeneration/pathology, Male, Molecular Sequence Data, Mutation/genetics, Nucleic Acid Denaturation, Pedigree, Polymerase Chain Reaction, Sequence Analysis, DNA
OAI-PMH
oai:serval.unil.ch:BIB_8AE11C597406
Pubmed
12324875
Création de la notice
28/01/2008 13:59
Dernière modification de la notice
20/08/2019 15:49
Données d'usage