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

Détails

ID Serval
serval:BIB_7EDDDDECF7D9
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping.
Périodique
Human Molecular Genetics
Auteur(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
Statut éditorial
Publié
Date de publication
09/1994
Peer-reviewed
Oui
Volume
3
Numéro
9
Pages
1657-1661
Langue
anglais
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't - Publication Status: ppublish
Résumé
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.
Mots-clé
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
Création de la notice
25/01/2008 17:18
Dernière modification de la notice
03/03/2018 18:42
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