Genetic polymorphism at spinocerebellar ataxia 1 and 2 loci in Brazil

• Published in: Genetics and molecular research Vol. 2; no. 4; pp. 360 - 365
• Main Authors: Duarte, Stenio F P, Gestinari, Raquel S, Campos Junior, Mário, Pimentel, Márcia M G, Lima, Marcelo A Costa
• Format: Journal Article
• Language: English
• Published: Brazil 30.12.2003
• Subjects: Adolescent; Adult; Ataxin-1; Ataxins; Brazil; DNA Mutational Analysis; Female; Gene Frequency; Genetic Predisposition to Disease; Humans; Male; Middle Aged; Nerve Tissue Proteins - genetics; Nuclear Proteins - genetics; Polymerase Chain Reaction; Polymorphism, Genetic - genetics; Proteins - genetics; Spinocerebellar Ataxias - genetics; Brazil

Dynamic mutation involves the expansion of a tandem arrayed DNA sequence that is polymorphic in the population. This mechanism is associated with neurological/neuromuscular disorders and the pathology depends on the extension of the repeated tract, with a specific threshold for each disease. We made...