Genetic linkage of Francois-Neetens fleck (mouchetee) corneal dystrophy to chromosome 2q35
Details
Serval ID
serval:BIB_9CAEC351B8A3
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Genetic linkage of Francois-Neetens fleck (mouchetee) corneal dystrophy to chromosome 2q35
Journal
Human Genetics
ISSN
0340-6717 (Print)
Publication state
Published
Issued date
05/2003
Volume
112
Number
5-6
Pages
593-9
Notes
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: May
Research Support, Non-U.S. Gov't --- Old month value: May
Abstract
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.
Keywords
Chromosome Mapping
*Chromosomes, Human, Pair 2
Corneal Dystrophies, Hereditary/etiology/*genetics
Female
Haplotypes
Humans
Linkage (Genetics)
Male
Penetrance
Pubmed
Web of science
Create date
28/01/2008 13:58
Last modification date
20/08/2019 16:03