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ATXN10 Microsatellite Distribution in a Peruvian Amerindian Population

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Abstract

Spinocerebellar ataxia type 10 (SCA10) is a repeat expansion disease occurring mostly in Latin America, suggesting that the mutation spread with the peopling of the Americas, or that Amerindian populations, have a higher ATXN10 mutability. High frequency of large normal alleles is associated with prevalence and relative frequency of other repeat expansion diseases. To test whether the allele distribution of the SCA10-causing ATXN10 microsatellite in an Amerindian Peruvian population differs from that of other populations. The ATXN10 allele distribution in a Quechua Peruvian population from Puno, Peru, is similar to that of Finland. Mean allele size and mode were also similar to those of Mexico, Japan, and white Europeans. ATXN10 allele distribution in a healthy Amerindian population from Peru does not differ from that of other populations.

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Acknowledgments

We are grateful to Victoria Marca and Karina Milla-Neyra for the administrative and logistic support as well as lab assistance.

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Authors and Affiliations

  1. Neurogenetics Research Center, Instituto Nacional de Ciencias Neurológicas, 1271 Ancash St., Barrios Altos, Lima, Lima, Peru

    Diego Véliz-Otani, Miguel Inca-Martinez, Olimpio Ortega, Pilar Mazzetti & Mario Cornejo-Olivas

  2. Lerner Research Institute, Genomic Medicine, Cleveland Clinic Foundation, Cleveland, OH, USA

    Miguel Inca-Martinez

  3. Post-Graduation Program of Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil

    Giovana B. Bampi, Laura B. Jardim & Maria Luiza Saraiva-Pereira

  4. Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Ramiro Barcelos 2350, Porto Alegre, Rio Grande do Sul, 90035-903, Brazil

    Giovana B. Bampi, Laura B. Jardim & Maria Luiza Saraiva-Pereira

  5. Laboratory of Genetics Identification – Research Center, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil

    Giovana B. Bampi, Laura B. Jardim & Maria Luiza Saraiva-Pereira

  6. Department of Internal Medicine, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil

    Laura B. Jardim

  7. Department of Biochemistry, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil

    Maria Luiza Saraiva-Pereira

  8. Center for Global Health, Universidad Peruana Cayetano Heredia, Lima, Peru

    Mario Cornejo-Olivas

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  1. Diego Véliz-Otani
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Correspondence to Diego Véliz-Otani.

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The sample donors gave informed consent for further use of their DNA samples in other genetic studies related to neurological disorders. The study was approved by the Institutional Review Board at Instituto Nacional de Ciencias Neurológicas (INCN).

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Véliz-Otani, D., Inca-Martinez, M., Bampi, G.B. et al. ATXN10 Microsatellite Distribution in a Peruvian Amerindian Population. Cerebellum 18, 841–848 (2019). https://doi.org/10.1007/s12311-019-01057-x

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