دورية أكاديمية
Genetic and physical mapping at the limb-girdle muscular dystrophy locus (LGMD2B) on chromosome 2p.
| العنوان: | Genetic and physical mapping at the limb-girdle muscular dystrophy locus (LGMD2B) on chromosome 2p. |
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| المؤلفون: | Bashir R; Department of Human Genetics, University of Newcastle upon Tyne, NE2 4AA, United Kingdom., Keers S, Strachan T, Passos-Bueno R, Zatz M, Weissenbach J, Le Paslier D, Meisler M, Bushby K |
| المصدر: | Genomics [Genomics] 1996 Apr 01; Vol. 33 (1), pp. 46-52. |
| نوع المنشور: | Journal Article; Research Support, Non-U.S. Gov't |
| اللغة: | English |
| بيانات الدورية: | Publisher: Academic Press Country of Publication: United States NLM ID: 8800135 Publication Model: Print Cited Medium: Print ISSN: 0888-7543 (Print) Linking ISSN: 08887543 NLM ISO Abbreviation: Genomics Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: San Diego : Academic Press, [c1987- |
| مواضيع طبية MeSH: | Chromosomes, Human, Pair 2*, Muscular Dystrophies/*genetics, Animals ; Base Sequence ; Chromosome Mapping ; Chromosomes, Artificial, Yeast ; DNA Primers ; Female ; Genetic Linkage ; Genetic Markers ; Haplotypes ; Humans ; In Situ Hybridization, Fluorescence ; Male ; Mice ; Molecular Sequence Data ; Pedigree |
| مستخلص: | The limb-girdle muscular dystrophies (LGMD) are a genetically heterogeneous group of disorders, different forms of which have been mapped to at least six distinct genetic loci. We have mapped an autosomal recessive form of LGMD (LGMD2B) to chromosome 2p13. Two other conditions have been shown to map to this region or to the homologous region in mouse: a gene for a form of autosomal recessive distal muscular dystrophy, Miyoshi myopathy, shows linkage to the same markers on chromosome 2p as LGMD2B, and an autosomal recessive mouse mutation mnd2, in which there is rapidly progressive paralysis and muscle atrophy, has been mapped to mouse chromosome 6 to a region showing conserved synteny with human chromosome 2p12-p13. We have assembled a 6-cM YAC contig spanning the LGMD2B locus and have mapped seven genes and 13 anonymous polymorphic microsatellites to it. Using haplotype analysis in the linked families, we have narrowed our region of interest to a 0-cM interval between D2S2113 and D2S2112/D2S145, which does not overlap with the critical region for mnd2 in mouse. Use of these most closely linked markers will help to determine the relationship between LGMD2B and Miyoshi myopathy. YACs selected from our contig will be the starting point for the cloning of the LGMD2B gene and thereby establish the biological basis for this form of muscular dystrophy and its relationship with the other limb-girdle muscular dystrophies. |
| المشرفين على المادة: | 0 (DNA Primers) 0 (Genetic Markers) |
| تواريخ الأحداث: | Date Created: 19960401 Date Completed: 19960613 Latest Revision: 20101118 |
| رمز التحديث: | 20231215 |
| DOI: | 10.1006/geno.1996.0157 |
| PMID: | 8617508 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 0888-7543 |
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| DOI: | 10.1006/geno.1996.0157 |