title: Polymorphism of trinucleotide repeats in loci DM, DRPLA and SCA1 in East European populations.
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.
authors.affiliation: Institute of Molecular Genetics RAS, Kurchatov sq.2, Moscow, Russia. popova@img.ras.ru
authors.forename: S N
authors.initials: SN
authors.lastname: Popova
authors.forename: P A
authors.initials: PA
authors.lastname: Slominsky
authors.forename: E A
authors.initials: EA
authors.lastname: Pocheshnova
authors.forename: E V
authors.initials: EV
authors.lastname: Balanovskaya
authors.forename: L A
authors.initials: LA
authors.lastname: Tarskaya
authors.forename: N A
authors.initials: NA
authors.lastname: Bebyakova
authors.forename: L V
authors.initials: LV
authors.lastname: Bets
authors.forename: V P
authors.initials: VP
authors.lastname: Ivanov
authors.forename: L A
authors.initials: LA
authors.lastname: Livshits
authors.forename: E K
authors.initials: EK
authors.lastname: Khusnutdinova
authors.forename: V A
authors.initials: VA
authors.lastname: Spitcyn
authors.forename: S A
authors.initials: SA
authors.lastname: Limborska
mesh_terms: D000483:Alleles; D000067696:Ataxin-1; D000067528:Ataxins; D004247:DNA / Q000235:genetics; D005061:Europe, Eastern; D005787:Gene Frequency; D005843:Geography; D006801:Humans; D065636:Myotonin-Protein Kinase; D009419:Nerve Tissue Proteins / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics; D010802:Phylogeny; D011110:Polymorphism, Genetic; D017346:Protein Serine-Threonine Kinases; D011506:Proteins / Q000235:genetics*; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*; D018911:Trinucleotide Repeats / Q000235:genetics*
chemical_list: C000593749:ATXN1 protein, human; D000067696:Ataxin-1; D000067528:Ataxins; C585517:DMPK protein, human; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins; D011506:Proteins; C095278:atrophin-1; D004247:DNA; D065636:Myotonin-Protein Kinase; D017346:Protein Serine-Threonine Kinases