Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping.

Details

Serval ID
serval:BIB_7EDDDDECF7D9
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping.
Journal
Human Molecular Genetics
Author(s)
Hillaire D., Leclerc A., Fauré S., Topaloglu H., Chiannilkulchaï N., Guicheney P., Grinas L., Legos P., Philpot J., Evangelista T., Routon M.C., Mayer M., Pellissier J.F., Estournet B., Barols A., Hentati F., Feingold N., Beckmann J.S., Dubowitz V., Tomé F.M.S., Fardeau M.
ISSN
0964-6906
Publication state
Published
Issued date
09/1994
Peer-reviewed
Oui
Volume
3
Number
9
Pages
1657-1661
Language
english
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't - Publication Status: ppublish
Abstract
Congenital muscular dystrophies (CMD) are autosomal recessive, heterogeneous disorders. The commonest forms are the Fukuyama CMD (FCMD), associated with mental retardation and structural brain anomalies, and classical (occidental) CMD, with pure muscle expression. FCMD has been localized to chromosome 9q31-q33. Following the discovery of merosin deficiency in some CMD cases, we have localized, by homozygosity mapping and linkage analysis (Zmax = 5.6; theta = 0.0 for marker AFM127xb2) in four merosin-negative families a CMD gene in a 16 cM region of chromosome 6q2 in the region of the laminin M chain gene. In three consanguineous, merosin-positive, CMD families there was no linkage to either chromosome 6q2 or 9q31-q33.
Keywords
Chromosome Mapping, Chromosomes, Human, Pair 6, Chromosomes, Human, Pair 9, Consanguinity, Female, Genetic Markers, Homozygote, Humans, Laminin/deficiency, Laminin/genetics, Linkage (Genetics), Male, Muscular Dystrophies/congenital, Muscular Dystrophies/genetics, Pedigree
Pubmed
Web of science
Create date
25/01/2008 16:18
Last modification date
20/08/2019 14:39
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