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Arquivos de Neuro-Psiquiatria
Article . 2009 . Peer-reviewed
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Arquivos de Neuro-Psiquiatria
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Spinocerebellar ataxias: microsatellite and allele frequency in unaffected and affected individuals

Authors: Freund, Aline Andrade; Scola, Rosana Hermínia; Teive, Hélio A.G.; Arndt, Raquel Cristina; Costa-Ribeiro, Magda Clara Vieira da; Alle, Lupe Furtado; Werneck, Lineu Cesar;

Spinocerebellar ataxias: microsatellite and allele frequency in unaffected and affected individuals

Abstract

The diagnosis and incidence of spinocerebelar ataxias (SCA) is sometimes difficult to analyze due the overlap of phenotypes subtypes and are disorders of mutations caused by CAG trinucleotide repeat expansion. To investigate the incidence of the SCA in Southern Brazil, we analyzed the trinucleotide repeats (CAG)n at the SCA1, SCA2, SCA3, SCA6 and SCA7 loci to identify allele size ranges and frequencies. We examined blood sample from 154 asymptomatic blood donors and 115 individuals with progressive ataxias. PCR products were submitted to capillary electrophoresis. In the blood donors, the ranges of the five loci were: SCA1, 19 to 36 (CAG)n; SCA2, 6 to 28 (CAG)n; SCA3, 12 to 34 (CAG)n; SCA6, 2 to 13 (CAG)n; and SCA7, 2 to 10 (CAG)n. No deviations from Hardy-Weinberg equilibrium were detected. In the ataxia group, we found (CAG)n above the range of the asymptomatic blood donors in SCA3 (21.74%) followed by SCA2 (5.22%), SCA7 (2.61%), SCA6 (0.87%), and no cases of SCA1. The remaining 80 cases (69.56%) have different diagnoses from the type here studied. These data defined the alleles and their frequencies, as well as demonstrated their stability in the population not affected. The molecular diagnosis test confirmed the clinical diagnosis in 28/45 cases and classified another 7/70 from the clinical unclassified ataxias group.

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Keywords

Adult, Male, repetição de microsatélites, capillary electrophoresis, Polymerase Chain Reaction, (CAG)n em Brasileiros, Gene Frequency, Humans, Spinocerebellar Ataxias, spinocerebelar ataxia, allelic repeats, population genetics, Electrophoresis, Capillary, Proteins, repetição de alelos, genética de populações, Case-Control Studies, eletroforese capilar, ataxia espinocerebelar, Female, microsatellites repeats, Trinucleotide Repeat Expansion, (CAG)n in Brazilians, Brazil

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citations
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
7
Average
Average
Average
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gold