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Simulation of the distribution of spinocerebellar ataxia type 1 in Yakut populations: Description of the model

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Abstract

A simulation model has been developed for predicting the distribution of trinucleotide repeat expansion diseases in human populations. The interface of the software used to run this model presents the options for simulating natural reproduction of a population, with the population demographic parameters taken into account, and for simulating the appearance of a dynamic mutation in populations, transmission of the mutant gene from parents to offspring, and the effect of the phenotypic expression of the disease (the patients’ life expectancy and birthrate) on the transmission of the mutant allele in the patients’ families and its accumulation in the population.

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Authors and Affiliations

  1. Research Institute of Medical genetics, Tomsk Scientific center, Siberian Branch, Russian Academy of Medical Sciences, Tomsk, 634050, Russia

    L. A. Koneva & A. N. Kucher

  2. OAO Medtekhnika, Tomsk, 634050, Russia

    A. V. Konev

Authors
  1. L. A. Koneva
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  2. A. V. Konev
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  3. A. N. Kucher
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Correspondence to L. A. Koneva.

Additional information

Original Russian Text © L.A. Koneva, A.V. Konev, A.N. Kucher, 2010, published in Genetika, 2010, Vol. 46, No. 3, pp. 417–424.

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Koneva, L.A., Konev, A.V. & Kucher, A.N. Simulation of the distribution of spinocerebellar ataxia type 1 in Yakut populations: Description of the model. Russ J Genet 46, 370–376 (2010). https://doi.org/10.1134/S1022795410030154

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  • DOI: https://doi.org/10.1134/S1022795410030154

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