Mapping of a chromosome 15 region involved in limb girdle muscular dystrophy.

Détails

ID Serval
serval:BIB_79FBEDF1BD2E
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Mapping of a chromosome 15 region involved in limb girdle muscular dystrophy.
Périodique
Human Molecular Genetics
Auteur(s)
Fougerousse F., Broux O., Richard I., Allamand V., de Souza A.P., Bourg N., Brenguier L., Devaud C., Pasturaud P., Roudaut C., Chiannilkulchai N., Hillaire D., Bui H., Chumakov I., Weissenbach J., Cherif D., Cohen D., Beckmann J.S.
ISSN
0964-6906
Statut éditorial
Publié
Date de publication
02/1994
Peer-reviewed
Oui
Volume
3
Numéro
2
Pages
285-293
Langue
anglais
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't - Publication Status: ppublish
Résumé
A gene responsible for an autosomal recessive form of limb girdle muscular dystrophy (LGMD2, MIM number 253600) has been localized on chromosome 15. After genotyping additional markers of this chromosome, two were found to flank the disease locus within an interval that was assessed as 7 centiMorgans. The screening of the CEPH YAC libraries with the corresponding probes allowed the isolation of YACs which were used in fluorescence in situ hybridization to define the LGMD2 cytogenetic interval as 15q15.1-15q21.1. Four different approaches were pursued for the establishment of the physical map of this area which allowed the assembly of an uninterrupted YAC contig spanning an estimated 10-12 megabases, with an average STS resolution of 140 kb or for the 25 polymorphic microsatellites on this map, of 400 kb. Twelve genes and 25 genetic markers were positioned in this contig, which is constituted of a minimum of 10 clones.
Mots-clé
Chromosome Mapping/methods, Chromosome Walking, Chromosomes, Artificial, Yeast, Chromosomes, Human, Pair 15, Genes, Recessive, Genetic Markers, Genotype, Humans, In Situ Hybridization, Fluorescence, Muscular Dystrophies/genetics, Polymerase Chain Reaction, Sequence Tagged Sites
Pubmed
Web of science
Création de la notice
25/01/2008 17:18
Dernière modification de la notice
03/03/2018 18:33
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