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

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Serval ID
serval:BIB_8AE11C597406
Type
Article: article from journal or magazin.
Collection
Publications
Institution
UNIL/CHUV
Title
Use of denaturing HPLC and automated sequencing to screen the VMD2 gene for mutations associated with Best's vitelliform macular dystrophy.
Journal
Ophthalmic Genetics
Author(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
Publication state
Published
Issued date
09/2002
Peer-reviewed
Oui
Volume
23
Number
3
Pages
167-174
Language
english
Abstract
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).
Keywords
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
Create date
28/01/2008 13:59
Last modification date
20/08/2019 15:49
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