[Simulation of the distribution of spinocerebellar ataxia type 1 in Yakut populations: model parameters and results of simulation].
Demographic and clinical genetic parameters used for simulation modeling of the prevalence of spinocerebellar ataxia type 1 (SCA1) in Yakut populations are described. Demographic parameters of simulated populations and the clinical genetic characteristics of carriers of the SCA1 mutant allele in them have been compared with actual data on Abyisky and Ust-Aldansky uluses of the Republic of Sakha (Yakutia). The results of a series of simulation experiments (without migration or spontaneous mutagenesis) agree with the conclusion that the high prevalence of rate of spinocerebellar ataxia type 1 in Yakut populations may be maintained because of their specific demographic structure. Prediction of the disease prevalence has shown that it will take about 1290 years for natural selection to eliminate the mutation from the population. If medical genetic counseling (MGC) is offered to 1% of the carriers of the mutation, this period will be reduced to 200 years.
Koneva
L A
LA
Konev
A V
AV
Kucher
A N
AN
D000483:Alleles; D000067696:Ataxin-1; D000067528:Ataxins; D005260:Female; D006801:Humans; D008297:Male; D008957:Models, Genetic; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D012800:Siberia / Q000453:epidemiology / Q000208:ethnology; D020754:Spinocerebellar Ataxias / Q000208:ethnology / Q000235:genetics*
C000593749:ATXN1 protein, human; D000067696:Ataxin-1; D000067528:Ataxins; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins