Mapping of a chromosome 15 region involved in limb girdle muscular dystrophy
| Autor: | Patricia Pasturaud, Catherine Devaud, Isabelle Richard, O. Broux, Valérie Allamand, Anete Perelra de Souza, Lydle Brenguler, Hung Bui, Jacques S. Beckmann, Ilya Chumakov, Jean Welssenbach, Carinne Roudaut, Nathalie Bourg, Daniel Cohen, Françoise Fougerousse, N. Chiannilkulchai, Dominique Hillaire, Dorra Cherif |
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| Rok vydání: | 1994 |
| Předmět: |
Genetic Markers
Genotype Locus (genetics) Genes Recessive Biology Polymerase Chain Reaction Muscular Dystrophies Sequence-tagged site Centimorgan Chromosome 15 Chromosome Walking Gene mapping Genetics medicine Humans Molecular Biology Chromosomes Artificial Yeast Genetics (clinical) In Situ Hybridization Fluorescence Sequence Tagged Sites Chromosomes Human Pair 15 medicine.diagnostic_test Contig Chromosome Mapping General Medicine medicine.disease Fluorescence in situ hybridization Limb-girdle muscular dystrophy |
| Zdroj: | Human molecular genetics. 3(2) |
| ISSN: | 0964-6906 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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