title: Genetic mapping and haplotype analysis of oculopharyngeal muscular dystrophy.
abstract: Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant muscular dystrophy characterized by late onset ptosis, proximal muscle weakness and swallowing difficulties. This disease has been recently linked to chromosome 14q11.2-q13 in French-Canadian pedigrees. We studied three unrelated American families with OPMD of Hispanic descent and our results indicate that in this ethnic group, this disease also maps to chromosome 14q11.2-q13 (marker MYH7.24; Zmax = 3.98; theta max = 0). These results represent an independent demonstration of disease linkage in a second distinct ethnic group. Furthermore, our analysis demonstrates a unique haplotype that is shared by affected individuals from all three families suggesting a founder effect for OPMD in this population. Meiotic recombinants and radiation hybrid mapping permit the narrowing of the critical region to 1 Mb which will facilitate positional cloning of the OPMD disease gene.
authors.affiliation: Department of Neurology, Molecular Biology, University Park, USC School of Medicine, Los Angeles 90089, USA.
authors.forename: R P
authors.initials: RP
authors.lastname: Grewal
authors.forename: R
authors.initials: R
authors.lastname: Cantor
authors.forename: G
authors.initials: G
authors.lastname: Turner
authors.forename: R K
authors.initials: RK
authors.lastname: Grewal
authors.forename: S D
authors.initials: SD
authors.lastname: Detera-Wadleigh
mesh_terms: D002874:Chromosome Mapping; D002883:Chromosomes, Human, Pair 14; D008040:Genetic Linkage; D005819:Genetic Markers; D006239:Haplotypes; D006630:Hispanic or Latino / Q000235:genetics*; D006801:Humans; D008126:Lod Score; D009136:Muscular Dystrophies / Q000235:genetics*; D009801:Oculomotor Muscles / Q000503:physiopathology*; D010375:Pedigree; D010609:Pharyngeal Muscles / Q000503:physiopathology*
chemical_list: D005819:Genetic Markers