Genetic linkage of Bietti crystallin corneoretinal dystrophy to chromosome 4q35.

Details

Serval ID
serval:BIB_15268
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Genetic linkage of Bietti crystallin corneoretinal dystrophy to chromosome 4q35.
Journal
American journal of human genetics
Author(s)
Jiao X., Munier F.L., Iwata F., Hayakawa M., Kanai A., Lee J., Schorderet D.F., Chen M.S., Kaiser-Kupfer M., Hejtmancik J.F.
ISSN
0002-9297
Publication state
Published
Issued date
2000
Peer-reviewed
Oui
Volume
67
Number
5
Pages
1309-13
Language
english
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't - Publication Status: ppublish
Abstract
Bietti crystalline corneoretinal dystrophy (BCD) is an autosomal recessive retinal degeneration characterized by multiple glistening intraretinal dots scattered over the fundus, degeneration of the retina, and sclerosis of the choroidal vessels, ultimately resulting in progressive night blindness and constriction of the visual field. Although BCD has been associated with abnormalities in fatty-acid metabolism and absence of fatty-acid binding by two cytosolic proteins, the genetic basis of BCD is unknown. We report linkage of the BCD locus to D4S426 (maximum LOD score [Z(max)] 4.81; recombination fraction [straight theta] 0), D4S2688 (Zmax=3.97; straight theta=0), and D4S2299 (Zmax=5.31; straight theta=0), on chromosome 4q35-4qtel. Multipoint analysis confirmed linkage to the region telomeric of D4S1652 with a Z(max) of 5.3 located 4 cM telomeric of marker D4S2930.
Keywords
China, Chromosome Mapping, Chromosomes, Human, Pair 4, Corneal Dystrophies, Hereditary, Crystallins, Ethnic Groups, Europe, Female, Genes, Recessive, Genetic Markers, Haplotypes, Humans, Japan, Linkage (Genetics), Lod Score, Male, Pedigree
Pubmed
Web of science
Open Access
Yes
Create date
19/11/2007 12:08
Last modification date
20/08/2019 12:44
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