The ethnospecific distribution of the HFE haplotypes for IVS2(+4)t/c, IVS4(-44)t/c, and IVS5(-47)g/a in populations of Russia and possible effects of these single-nucleotide polymorphisms in splicing

Genetic Testing and Molecular Biomarkers
S V MikhaĭlovaA G Romashchenko

Abstract

The aim of this work was a haplotype analysis of the major mutations (C282Y, H63D, S65C) and IVS2(+4)t/c, IVS4(-44)t/c, and IVS5(-47)a/g polymorphisms of the hemochromatosis HFE gene in populations inhabiting the territories of Russia (Russians, Finno-Ugrians, Central Asians, and Arctic Mongoloids). The hemochromatosis gene (HFE) alleles were detected using the polymerase chain reaction/restriction fragment length polymorphism method. Of the eight possible intronic haplotype variants, the TTG, TTA, CTA, and CCA were identified. The HFE alleles with the different haplotype variants were distributed in an ethnospecific manner among the populations. Our finding was that every one of the C282Y, H63D, and S65C mutations was in linkage disequilibrium only with one of the intronic haplotype variants: TTG, CTA, and CCA, respectively. The data from context analysis of DNA regions where the examined single-nucleotide polymorphisms are located suggested their involvement in splicing. Different genotypes of the HFE gene occur at different frequencies among populations of Russia. Carriers of the specific genotype variants may potentially express distinct sets of alternative HFE mRNAs.

References

May 1, 1992·Proceedings of the National Academy of Sciences of the United States of America·A Ishitani, D E Geraghty
Jan 1, 1988·Annual Review of Genetics·C Guthrie, B Patterson
Jan 1, 1994·Annual Review of Immunology·S M ShawarR R Rich
May 10, 1994·Proceedings of the National Academy of Sciences of the United States of America·M KirszenbaumE Carosella
Jan 1, 1996·Blood Cells, Molecules & Diseases·E BeutlerM Chorney
Mar 18, 1997·Proceedings of the National Academy of Sciences of the United States of America·S ParkkilaW S Sly
Jul 1, 1997·Journal of Molecular Evolution·I B Rogozin, L Milanesi
Aug 1, 1997·Blood Cells, Molecules & Diseases·E Beutler, C West
Dec 16, 1997·Proceedings of the National Academy of Sciences of the United States of America·S ParkkilaW S Sly
Mar 18, 1999·Immunogenetics·D A Rhodes, J Trowsdale
Mar 26, 1999·American Journal of Human Genetics·J RochetteK J Robson
Jun 1, 1999·Blood Cells, Molecules & Diseases·G P JeffreyP C Adams
Jul 13, 1999·Human Molecular Genetics·J N de VilliersM J Kotze
Aug 23, 2000·Genetic Testing·A T Merryweather-ClarkeK J Robson
Sep 23, 2000·Blood Cells, Molecules & Diseases·A ThéniéJ Mosser
Feb 24, 2001·Molecular Aspects of Medicine·P T LieuY Yang
Jul 12, 2001·Proceedings of the National Academy of Sciences of the United States of America·G NicolasS Vaulont
Aug 2, 2001·American Journal of Epidemiology·E H HansonW Burke
Sep 1, 2001·British Journal of Haematology·H A JacksonM Worwood
Feb 28, 2002·Proceedings of the National Academy of Sciences of the United States of America·Abdul WaheedWilliam S Sly
Aug 28, 2002·Genetics·Christopher Toomajian, Martin Kreitman
Nov 14, 2002·Proceedings of the National Academy of Sciences of the United States of America·Hal DrakesmithAlain R M Townsend
Jan 28, 2003·Blood Cells, Molecules & Diseases·Kaashif A AhmadRobert E Fleming
Mar 26, 2003·Gut·A Pietrangelo
Apr 22, 2003·The Journal of Histochemistry and Cytochemistry : Official Journal of the Histochemistry Society·William J H Griffiths, Timothy M Cox
Apr 23, 2003·Blood·Richard S Ajioka, James P Kushner
Mar 27, 2004·The Journal of Biological Chemistry·Paige S Davies, Caroline A Enns
Apr 22, 2004·RNA·Pedro Alexandre Favoretto GalanteSandro José de Souza
Jun 3, 2004·Journal of Molecular Medicine : Official Organ of the Gesellschaft Deutscher Naturforscher Und Ärzte·Susanne LudwiczekGuenter Weiss
Mar 19, 2005·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Arantza Pacho de LucasPablo Morales Perez

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Citations

Sep 4, 2012·Journal of Genetics·Barjinderjit Kaur DhillonReena Das
May 26, 2012·British Journal of Haematology·Bruno SilvaPaula Faustino
Jul 16, 2015·Journal of Genetics·Sandra TosteLicínio Manco

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Datasets Mentioned

BETA
AF079409

Methods Mentioned

BETA
PCR

Software Mentioned

PHYLIP

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