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Mutation p.E92K is the primary cause of cystic fibrosis in Chuvashes

  • Human Genetics
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Abstract

Molecular genetic study of the CFTR gene in cystic fibrosis patients from the Chuvash Republic is presented. We found linkage disequilibrium of the disease with 22-7-16-13 haplotype using intragenic markers. Major mutation p.E92K was revealed in chromosomes carrying this haplotype. The frequency of this mutation in Chuvash patients was 66.6%. Population study of the distribution of two mutations (p.E92K and F508del) of the CFTR gene revealed that their population frequency in heterozygous carriers was one per 37 subjects while calculated cystic fibrosis frequency in Chuvashia is one per 5420 newborns.

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Authors and Affiliations

  1. Research Center for Medical Genetics, Russian Academy of Medical Sciences, Moscow, 115478, Russia

    A. A. Stepanova & A. V. Polyakov

  2. Ministry of Health and Social Development of Chuvash Republic, President Perinatal Center, Cheboksary, 428000, Russia

    A. V. Abrukova & E. N. Savaskina

Authors
  1. A. A. Stepanova
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  2. A. V. Abrukova
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  3. E. N. Savaskina
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  4. A. V. Polyakov
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Correspondence to A. A. Stepanova.

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Original Russian Text © A.A. Stepanova, A.V. Abrukova, E.N. Savaskina, A.V. Polyakov, 2012, published in Genetika, 2012, Vol. 48, No. 7, pp. 863–871.

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Stepanova, A.A., Abrukova, A.V., Savaskina, E.N. et al. Mutation p.E92K is the primary cause of cystic fibrosis in Chuvashes. Russ J Genet 48, 731–737 (2012). https://doi.org/10.1134/S1022795412060166

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  • DOI: https://doi.org/10.1134/S1022795412060166

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