title: Linkage analysis in families with autosomal recessive limb-girdle muscular dystrophy (LGMD) and 6q probes flanking the dystrophin-related sequence.
abstract: The clinical similarity with the X-linked muscular dystrophies and the uniqueness of the homology between the DMD-like and the 1.8 kb sequences at the carboxyterminal domain of the dystrophin gene led to the suggestion that this 6q sequence might be a strong candidate for one of the autosomal recessive muscular dystrophies. Thus, we tested, through linkage analysis, if 6q probes flanking the dystrophin-homologous sequence are linked to the gene responsible for limb-girdle dystrophy (LGMD). A total of 226 individuals (57 patients and 169 unaffected relatives) from 19 large unrelated Brazilian families was studied. Results of two-point analysis excluded linkage with MYB (6q22-23) and ESR (6q24-q27) at 8 = 0.10 and with TCP1 (6q25-q27) at 0 = 0.05, indicating that the LGMD gene is not in the 6q23-q27 region. Therefore, the dystrophin-homologue sequence is not the gene responsible for LGMD.
authors.affiliation: Departamento de Biologia, Universidade de São Paulo, Brazil.
authors.forename: M R
authors.initials: MR
authors.lastname: Passos-Bueno
authors.forename: J
authors.initials: J
authors.lastname: Terwilliger
authors.forename: J
authors.initials: J
authors.lastname: Ott
authors.forename: M
authors.initials: M
authors.lastname: Vainzof
authors.forename: D R
authors.initials: DR
authors.lastname: Love
authors.forename: K E
authors.initials: KE
authors.lastname: Davies
authors.forename: M
authors.initials: M
authors.lastname: Zatz
mesh_terms: D002874:Chromosome Mapping; D002896:Chromosomes, Human, Pair 6 / Q000648:ultrastructure*; D016189:Dystrophin / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D009136:Muscular Dystrophies / Q000235:genetics*; D010375:Pedigree; D011995:Recombination, Genetic; D012689:Sequence Homology, Nucleic Acid
chemical_list: D016189:Dystrophin