Selective forces related to spinocerebellar ataxia type 2

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dc.contributor.authorGodeiro Junior, Clécio de Oliveira
dc.contributor.authorSena, Lucas Schenatto
dc.contributor.authorCastilhos, Raphael Machado
dc.contributor.authorMattos, Eduardo Preusser
dc.contributor.authorFurtado, Gabriel Vasata
dc.contributor.authorPedroso, José Luiz
dc.contributor.authorBarsottini, Orlando
dc.contributor.authorAmorim, Maria Marla Paiva de
dc.contributor.authorPereira, Maria Luiza Saraiva
dc.contributor.authorJardim, Laura Bannach
dc.contributor.authorID0000-0002-4312-1633pt_BR
dc.date.accessioned2023-06-29T19:55:01Z
dc.date.available2023-06-29T19:55:01Z
dc.date.issued2018-09-15
dc.description.resumoSpinocerebellar ataxia type 2 (SCA2) is caused by an unstable expanded CAG repeat tract (CAGexp) at ATXN2. Although prone to selective forces such as anticipation, SCA2 frequency seems to be stable in populations. Our aim was to estimate reproductive success, segregation patterns, and role of anticipation in SCA2. Adult subjects from families with molecular diagnosis provided data about all his/her relatives. Affected and unaffected sibs older than 65.7 years of age were used to estimate reproductive success and segregation patterns. Twenty-one SCA2 families were studied, including 1017 individuals (164 affected) who were born from 1840 to 2012. The median number of children of the non-carriers and carriers, among 99 subjects included in the reproductive success analysis, were 2 and 3 (p < 0.025), respectively. Therefore, the reproductive success of carriers was 1.5. There were 137 non-carriers (59.6%) and 93 carriers (40.4%) (p = 0.04), among subjects included in the segregation analysis. Age at onset across generations pointed to anticipation as a frequent phenomenon. We raised evidence in favor of increased reproductive success related to the carrier state at ATXN2, and segregation distortion favoring normal alleles. Since majority of normal alleles analyzed carried 22 repeats, we propose that this distortion segregation can be related to the high frequency of this allele in human chromosomes.pt_BR
dc.identifier.citationGODEIRO JUNIOR, Clécio de Oliveira et al. Selective Forces Related to Spinocerebellar Ataxia Type 2. The Cerebellum, [S.L.], v. 18, n. 2, p. 188-194, 15 set. 2018. Springer Science and Business Media LLC. http://dx.doi.org/10.1007/s12311-018-0977-7. Disponível em: https://link.springer.com/article/10.1007/s12311-018-0977-7. Acesso em: 29 jun. 2023.pt_BR
dc.identifier.doihttps://doi.org/10.1007/s12311-018-0977-7
dc.identifier.urihttps://repositorio.ufrn.br/handle/123456789/52930
dc.languageenpt_BR
dc.publisherSpringerpt_BR
dc.subjectanticipationpt_BR
dc.subjectCAG repeatspt_BR
dc.subjectreproductive successpt_BR
dc.subjectsegregation distortionpt_BR
dc.subjectSCA2pt_BR
dc.subjectspinocerebellar ataxia type 2pt_BR
dc.titleSelective forces related to spinocerebellar ataxia type 2pt_BR
dc.typearticlept_BR

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