Abstract
A normal polymorphism at three triplet repeat loci (myotonic dystrophy (DM), dentatorubral-pallidoluysian atrophy (DRPLA) and spinocerebellar ataxia type 1 (SCA1)) were examined in healthy unrelated individuals from the Siberian Yakut (Mongoloid) population, the Adygei (Caucasian) population and nine East European populations: populations from Russia (Holmogory, Oshevensk, Kursk, Novgorod, Udmurts, Bashkir), two Ukrainian populations (Lviv and Alchevsk) and one Belarussian. The distribution of alleles for DRPLA and SCA1 were similar for all East-European populations. For the DM locus, East European populations had typical allele distribution profiles with two modes, (CTG)5 and (CTG)11–14, but some differences were found for the Bashkir population where alleles containing 11–14 CTG repeats had relatively higher frequency. The Yakut population had different allele spectra for all types of repeats studied. Higher heterozygosity levels and insignificant differences between expected and observed heterozygosity were found for all tested loci. The latter led us to suggest that the trinucleotide repeat loci analysed are not influenced by selection factors and could be useful for genetic relationship investigations in different populations.
Similar content being viewed by others
Article PDF
References
Caskey CT, Pizutty A, Fu YH, Fenwick Jr RG, Nelson DL . Triplet repeat mutation in human disease Science 1992 256: 784–789
Richards RI, Crawford J, Narahara K et al. Dynamic mutation loci: allele distribution in different populations Ann Hum Genet 1996 60: 391–400
Koide R, Ikeuchi T, Onodera O et al. Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA) Nat Genet 1994 6: 9–13
Gusella JF, MacDonald ME . Trinucleotide instability: a repeating theme in human inherited disorders Annu Rev Med 1996 47: 201–209
Nelson DL . Six human genetic disorders involving mutant trinucleotide repeats Genome Analysis 1993 7: 1–24
Brook JD, McCurrach ME, Harley HG et al. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member Cell 1992 68: 799–808
Zerilnick C, Torroni A, Sherman SL, Warren ST . Normal variation at the myotonic dystrophy locus in global human populations Am J Hum Genet 1995 56: 123–130
Orr HT, Chung MY, Banfi S et al. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1 Nat Genet 1993 4: 221–226
Nagafuchi S, Yanagisawa H, Sato K et al. Dentatorubral and palladoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p Nat Genet 1994 6: 14–18
Gyurus JM, Molnar J, Melegh B et al. Trinucleotide repeat polymorphism at five disease loci in mixed Hungarian population Am J Med Genet 1999 87: 245–250
Tishkoff SA, Goldman A, Calafell F et al. A global haplotype analysis of the myotonic dystrophy locus: implications for the evolution of modern humans and for the origin of the myotonic dystrophy mutation Am J Hum Genet 1998 62: 1389–1402
Miller SA, Dykes DD, Polesky HF . A sample salting out procedure for extracting DNA from human nucleated cells Nucleic Acid Res 1988 16: 1215
Popova SN, Mikulich AI, Slominski PA, Shadrina MI, Pomasanova MA, Limborska SA . Polymorphism of the (CTG)n repeat in the myotonin protein kinase (DM) gene in Belarussian populations: analysis of interethnic heterogeneity. (In Russian) Genetika 1999 35: 994–997
Ashizawa T, Epstein HF . Ethnic distribution of myotonic dystrophy gene Lancet 1991 338: 642–643
Yeh FC, Yang R-C . POPGENE version 1.21 1997 http://www.ualberta.ca/∼fyeh
Lewis PO, Zaykin D . Genetic Data Analysis Software (GDA) version 1d15. http://lewis.eeb.uconn.edu/lewishome/gda.html
Acknowledgements
We would like to thank Drs AI Mikulich, AV Stepanova, MA Solodilova and SA Kravchenko for providing the blood samples. This study was supported in part by grants from the Russian State Program ‘Frontiers in Genetics’, ‘Human Genome’, and the Russian Basic Research Foundation, grant no. 99-04-27515.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Popova, S., Slominsky, P., Pocheshnova, E. et al. Polymorphism of trinucleotide repeats in loci DM, DRPLA and SCA1 in East European populations. Eur J Hum Genet 9, 829–835 (2001). https://doi.org/10.1038/sj.ejhg.5200716
Received:
Revised:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1038/sj.ejhg.5200716
Keywords
This article is cited by
-
Distribution of the CAG Triplet Repeat in ATXN1, ATXN3, and CACNA1A Loci in Peruvian Population
The Cerebellum (2020)
-
p53 polymorphisms in Russia and Belarus: correlation of the 2-1-1 haplotype frequency with longitude
Molecular Genetics and Genomics (2005)
-
Polymorphism of the (CTG)n Repeat of the Myotonin Protein Kinase Gene in Populations of the Sakha Republic (Yakutia) and Central Asia
Molecular Biology (2005)