title: Sarcoglycanopathies: a multiplex molecular analysis for the most common mutations.
abstract: Sarcoglycanopathies (SGpathies) are highly frequent among severely affected limb-girdle muscular dystrophy patients. On the basis of the findings of 5 common mutations in the 4 sarcoglycan (SG) genes in the Brazilian population, we standardized a multiplex polymerase chain reaction-single-strand conformation polymorphism methodology for their concomitant analysis in DNA samples. The test was able to confirm the diagnosis in about 63% of new patients with a suspected SGpathy and was particularly important in patients in advanced stages of the disease, when obtaining a muscle biopsy for analysis may be very difficult. As common mutations have been described in several countries, this multiplex analysis could be useful for the diagnosis of SGpathies if established according to the most prevalent mutations in each population. Besides, even though the disorder studied is rare, the technique could be broadly applicable to other genes and disorders.
authors.affiliation: Human Genome Research Center, Department of Biology, IBUSP, São Paulo, Brazil.
authors.forename: Telma L F
authors.initials: TL
authors.lastname: Gouveia
authors.forename: Julia F O
authors.initials: JF
authors.lastname: Paim
authors.forename: Rita C
authors.initials: RC
authors.lastname: Pavanello
authors.forename: Mayana
authors.initials: M
authors.lastname: Zatz
authors.forename: Mariz
authors.initials: M
authors.lastname: Vainzof
mesh_terms: D000293:Adolescent; D000328:Adult; D001938:Brazil; D002648:Child; D004252:DNA Mutational Analysis; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D018482:Muscle, Skeletal / Q000737:chemistry; D049288:Muscular Dystrophies, Limb-Girdle / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D018807:Polymorphism, Single-Stranded Conformational; D049031:Sarcoglycans / Q000032:analysis / Q000172:deficiency / Q000235:genetics*
chemical_list: D049031:Sarcoglycans