Genetic linkage of Francois-Neetens fleck (mouchetee) corneal dystrophy to chromosome 2q35

Détails

ID Serval
serval:BIB_9CAEC351B8A3
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Genetic linkage of Francois-Neetens fleck (mouchetee) corneal dystrophy to chromosome 2q35
Périodique
Human Genetics
Auteur⸱e⸱s
Jiao  X., Munier  F. L., Schorderet  D. F., Zografos  L., Smith  J., Rubin  B., Hejtmancik  J. F.
ISSN
0340-6717 (Print)
Statut éditorial
Publié
Date de publication
05/2003
Volume
112
Numéro
5-6
Pages
593-9
Notes
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: May
Résumé
Francois-Neetens fleck (mouchetee) corneal dystrophy is an autosomal dominant corneal dystrophy characterized by scattered small white flecks occurring at all levels of the corneal stroma. We report linkage of the CFD locus to D2S2289 (Z(max)=4.46, theta=0), D2S325 (Z(max)=3.28, theta=0), D2S317 (Z(max)=3.1, theta=0), D2S143 (Z(max)=3.8, theta=0.03), and D2S2382 (Z(max)=5.0, theta=0) on chromosome 2q35. Multipoint analysis confirmed linkage to the region between D2S117 and D2S126 with a maximum multipoint lod score of 5.0 located midway between D2S2289 and D2S325. Analysis of CFD in these same families assuming a 90% penetrance increased the maximum lod score to 6.28 at D2S157.
Mots-clé
Chromosome Mapping *Chromosomes, Human, Pair 2 Corneal Dystrophies, Hereditary/etiology/*genetics Female Haplotypes Humans Linkage (Genetics) Male Penetrance
Pubmed
Web of science
Création de la notice
28/01/2008 12:58
Dernière modification de la notice
20/08/2019 15:03
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