Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping
| Autor: | Dominique Hillaire, Anne Leclerc, Sabine Fauré, Haluk Topaloglu, Nuchanard Chiannllkulchaï, Pascale Guicheney, Laurent Grinas, Patricia Legos, Joanne Philpot, Teresinha Evangelista, Marie-Claude Routon, Michèle Mayer, Jean-Francols Pellissier, Brigitte Estournet, Annie Barols, Fayçal Hentati, Nicole Feingold, Jacqui S.Beckmann, Victor Dubowitz, Fernando M.S.Tomé, Michel Fardeau |
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| Rok vydání: | 1994 |
| Předmět: |
Genetic Markers
Male Genetic Linkage Consanguinity Biology Muscular Dystrophies Gene mapping Genetic linkage Fukuyama congenital muscular dystrophy Genetics medicine Humans Muscular dystrophy Molecular Biology Genetics (clinical) Homozygote Chromosome Mapping Chromosome General Medicine medicine.disease Disease gene identification Pedigree Genetic marker Chromosomes Human Pair 6 Female Laminin Chromosomes Human Pair 9 |
| Zdroj: | Human Molecular Genetics. 3:1657-1661 |
| ISSN: | 1460-2083 0964-6906 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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