title: Limb-girdle muscular dystrophy is closely linked to the fibrillin locus on chromosome 15.
abstract: Limb-girdle Muscular Dystrophy (LGMD) is a rare form of muscular dystrophy inherited as an autosomal recessive trait. The LGMD locus was recently mapped to chromosome 15. We tested the hypothesis that fibrillin is a candidate in the etiology of the disorder by genetic linkage analysis. A large Amish kindred segregating the disorder was genotyped for two markers specific for the fibrillin gene on chromosome 15. A total of 105 individuals were genotyped and a maximum LOD score of Z = 9. 135 at theta = 0.04 was obtained. Our results confirmed the mapping of the LGMD on chromosome 15 and excluded fibrillin as a candidate molecule. These data will be useful in the construction of a fine map of the region surrounding the LGMD locus, a prerequisite for the cloning of the LGMD gene.
authors.affiliation: Department of Pediatrics, University of Connecticut Health Center, Farmington 06030.
authors.forename: M
authors.initials: M
authors.lastname: Velinov
authors.forename: M
authors.initials: M
authors.lastname: Sarfarazi
authors.forename: K
authors.initials: K
authors.lastname: Young
authors.forename: M E
authors.initials: ME
authors.lastname: Hodes
authors.forename: P M
authors.initials: PM
authors.lastname: Conneally
authors.forename: C E
authors.initials: CE
authors.lastname: Jackson
authors.forename: P
authors.initials: P
authors.lastname: Tsipouras
mesh_terms: D001483:Base Sequence; D002874:Chromosome Mapping; D002884:Chromosomes, Human, Pair 15; D004247:DNA / Q000235:genetics; D005121:Extremities; D005260:Female; D000071837:Fibrillins; D015870:Gene Expression / Q000235:genetics; D005808:Genes, Recessive / Q000235:genetics; D008040:Genetic Linkage; D005838:Genotype; D006801:Humans; D008297:Male; D008840:Microfilament Proteins / Q000235:genetics* / Q000502:physiology; D008969:Molecular Sequence Data; D009136:Muscular Dystrophies / Q000209:etiology* / Q000235:genetics*; D010375:Pedigree
chemical_list: D000071837:Fibrillins; D008840:Microfilament Proteins; D004247:DNA