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Selective Forces Related to Spinocerebellar Ataxia Type 2

Sena, L. S., Castilhos, R. M., Mattos, E. P., Furtado, G. V., Pedroso, J. L., Barsottini, O., de Amorim, M. M. P., Godeiro, C., Pereira, M. L. S. & Jardim, L. B., 15-Sep-2018, In : Cerebellum. 7 p.

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  • Selective Forces Related to Spinocerebellar Ataxia Type 2

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DOI

Spinocerebellar 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.

Original languageEnglish
Number of pages7
JournalCerebellum
Publication statusPublished - 15-Sep-2018

    Keywords

  • ANTICIPATION, CAG REPEATS, REPRODUCTIVE SUCCESS, SEGREGATION DISTORTION, SCA2, Spinocerebellar ataxia type 2

ID: 65006958