Russian Journal of Genetics

, Volume 49, Issue 2, pp 237–245

Analysis of H63D mutation in hemochromatosis (HFE) gene in populations of Central Eurasia

  • R. I. Khusainova
  • N. N. Khusnutdinova
  • S. S. Litvinov
  • E. K. Khusnutdinova
Human Genetics

DOI: 10.1134/S1022795412120046

Cite this article as:
Khusainova, R.I., Khusnutdinova, N.N., Litvinov, S.S. et al. Russ J Genet (2013) 49: 237. doi:10.1134/S1022795412120046
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Abstract

An analysis of the frequency of H63D (c.187C>G) mutations in the HFE gene in 19 populations from Central Eurasia demonstrated that the distribution of the mutation in the region of interest was not uniform and that there were the areas of H63D accumulation. The investigation of three polymorphic variants, c.340+4T>C (rs2071303, IVS2(+4)T>C), c.893-44T>C (rs1800708, IVS4(-44)T>C), and c.1007-47G>A (rs1572982, IVS5(-47)A>G), in the HFE gene in individuals homozygous for H63D mutations in the HFE gene revealed the linkage of H63D with three haplotypes, *CTA, *TTG, and *TTA. These findings indicated the partial spread of the mutation in Central Eurasia from Western Europe, as well as the possible repeated appearance of the mutation on the territory on interest.

Copyright information

© Pleiades Publishing, Ltd. 2013

Authors and Affiliations

  • R. I. Khusainova
    • 1
  • N. N. Khusnutdinova
    • 1
  • S. S. Litvinov
    • 1
  • E. K. Khusnutdinova
    • 1
  1. 1.Institute of Biochemistry and Genetics, Ufa Scientific CenterRussian Academy of SciencesUfaBashkortostan, Russia