Confirmation of the 2p Locus for the Mild Autosomal Recessive Limb-Girdle Muscular Dystrophy Gene (LGMD2B) in Three Families Allows Refinement of the Candidate Region
| Autor: | Mayana Zatz, Tom Strachan, Anthea Stephenson, Luciana Vasquez, Ibrahim Mahneh, Katharine Bushby, Egbert Bakker, Sharon Keers, Eloisa de Sá Moreira, Suely Kazue Nagahashi Marie, M. Rita Passos-Bueno, Jean Weissenbach, Ramaisa Bashir, Mariz Vainzof, Paula Iughetti |
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| Rok vydání: | 1995 |
| Předmět: |
Male
musculoskeletal diseases Genetics Positional cloning Genetic heterogeneity Haplotype Chromosome Mapping Genes Recessive Locus (genetics) Biology medicine.disease Muscular Dystrophies Pedigree Haplotypes Gene mapping Genetic linkage Chromosomes Human Pair 2 medicine Humans Female Lod Score Muscular dystrophy Limb-girdle muscular dystrophy |
| Zdroj: | Genomics. 27:192-195 |
| ISSN: | 0888-7543 |
| DOI: | 10.1006/geno.1995.1024 |
| Popis: | The mild autosomal recessive limb-girdle muscular dystrophies (LGMD) are a heterogeneous group of muscle diseases. The first gene to be mapped and associated with this phenotype was a locus on 15q based on linkage analysis in families from a French geographic isolate. These results have been confirmed in other populations, but it was shown that there is genetic heterogeneity for this form of LGMD. Recently, a second locus has been mapped to chromosome 2p. The confirmation of the mapping of this second locus in LGMD families from different populations is of utmost importance for the positional cloning of this gene (HGMW-approved symbol LGMD2B). In this publication, haplotypes generated from five chromosome 2 markers from all of the known large families linked to chromosome 2p are reported together with the recombinants that show the current most likely location of the LGMD 2B gene. |
| Databáze: | OpenAIRE |
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