[Analysis of polymorphic loci of Huntington genes in peoples from the Volga-Ural region].

Eleven populations of the Volga-Ural region were analyzed with respect to three intragenic polymorphisms of the Huntington disease gene (IT15), including highly polymorphic (CAG)n and moderately polymorphic (CCG)n of exon 1 and neutral del2642 of exon 58. In the case of (CAG)n, 101 genotypes were observed, with genotype number varying from 15 in Southeastern Bashkirs to 34 in Mari. Allele diversity RS ranged from 9.

[Population-genetic structure of Chuvashia (from data on eight DNA loci in the nuclear genome)].

Population-genetic study of indigenous populations representing three ethnic Chuvash group: highland (Cheboksarsk and Morgaush district), lowland (Kanash district) and mid-lowland (Marposad district). Eight polymorphic DNA loci of the nuclear genome (VNTR/PAH, STR/PAH, VNTR/ApoB, VNTR/DAT1, APF, VNTR/eNOS, IVS6aGATT, and KM.19/PstI) were examined in the population of each district.

[CTG-repeat analysis of myotonin protein kinase gene in Bashkortostan patients with myotonic dystrophy].

A DNA analysis of 72 patients from Bashkortostan clinically diagnosed with myotonic dystrophy and 54 their family members was conducted. CTG-repeat expansion in the myotonin proteinkinase gene was found in 67 (92%) patients and 12 their relatives without clinical symptoms of the disease at the moment of examination. A correlation between the most distinct clinical symptoms and CTG-repeat number has been studied.

[Expansion and mutation rate in CTG repeats in the myotonic dystrophy gene].

The CTG repeat of the myotonic dystrophy (MD) gene was analyzed in 62 MD patients and 54 healthy members of their families. A CTG repeat expansion was revealed in 57 (92%) patients and in 12 relatives who did not express clinical signs of MD. Family analysis showed that the CTG repeat number increased, which was associated with anticipation, decreased, or remained the same (17.

[Normal polymorphism of the (CTG)n repeat in the myotonin protein kinase (DM) gene on chromosome 19q13.3 in Western European populations].

Polymorphism of a highly polymorphic CTG repeat in the 3'-untranslated region of the myotonin protein kinase gene was analyzed in healthy people from several Eastern European populations (Russians, Moldovans, Belarussians, Komis, Chuvashes, Udmurts, Bashkirs, Tatars, Maris, and Mordovians). In total, 26 alleles of the CTG repeat were found, the repeat number ranging from 5 to 33 (alleles with six and seven repeats were not detected). The heterozygosity of individual populations varied from 61 to 91%.

[Analysis of expansion of the triplet repeat (CTG)n in myotonic dystrophy patients from Bashkir].

A method was elaborated for simple and rapid diagnosis of myotonic dystrophy (MD). The method consists in estimating expansion of the CTG repeat in the myotonin protein kinase gene by means of PCR amplification of a gene fragment from genomic DNA and Southern hybridization of the amplified fragments with probe (CTG)9. Bashkir patients with Rossolimo-Steinert-Batten-Kurshmann MD were examined with this method.

[Evaluation of the relative contribution of Caucasoid and Mongoloid components in the formation of ethnic groups of the Volga-Ural region according to data of DNA polymorphism].

For the first time, an attempt was made to quantitatively estimate the relative contributions of major racial components to populations of the Volga-Ural region based on the data on allelic polymorphisms of nine loci of the mitochondrial and nuclear genomes. Comparison of the proportions of Caucasoid and Mongoloid characteristics in the gene pools of Bashkirs, Tatars, Chuvashes, Maris, Mordovians, Udmurts, and Komi revealed a heterogeneous pattern. Data on the proportions of major racial components in the nuclear genome indicated that the Caucasoid component was maximum in Mordovians, Komis, and Udmurts.

[Analysis of polymorphism of CTG repetitive sequences in the gene of myotonic dystrophy in human populations of the Volga-Ural region].

Distribution of CTG repetitive sequences in the myotonic dystrophy (MD) gene was analyzed in ten populations of the Volga-Ural region, including Tatars, Chuvashes, Maris, Udmurts, Mordovians, Komis, and four ethnogeographical groups of Bashkirs. A total of 25 alleles were found (9 to 14 in individual populations), with each allele containing 5 to 34 trinucleotide repeats. The allele frequency distribution had two peaks corresponding to alleles with 5 and 11-14 CTG repeats.

[Restriction polymorphism of the major non-decoding region of mitochondrial DNA in human populations from the Volga-Ural region].

The restriction fragment length polymorphism (RFLP) of the major noncoding region of mitochondrial DNA (mtDNA) was studied in the Bashkir (N = 217), Tatar (N = 57), Chuvash (N = 44), Mari (N = 52), Mordovian (N = 55), Udmurt (N = 62), and Komi (N = 45) populations. Of seven polymorphic AvaII, BamHI, EcoRV, KpnI, and RsaI restriction sites, five were found in Bashkirs and Tatars, and four were found in each of the other populations. In total, 13 mitotypes were detected, and only three of them were common to all populations from the Volga-Ural region.

[Analysis of DNA polymorphism in populations of the Volga-Ural region using genome fingerprinting with phage M13 DNA].

The hyperpolymorphism of minisatellite DNA hybridizing with DNA of bacteriophage M13 was analyzed in seven Turkic and Finno-Ugric populations from the Volga-Urals region. In total, hybridization revealed 80 BspRI genomic DNA fragments ranging in size from 1.7 to 10 kb; the average frequency of an individual fragment was 0.

[PCR analysis of microsatellite DNA markers: possibility of erroneous determination of genotypes].

A comparative study of two techniques for the PCR genotyping of highly polymorphic tandem repeats was carried out by the example of a triplet repeat in the myotonin protein kinase gene. Sequencing denaturing gels were shown to yield more precise results in the analysis of amplification products.

[Allelic polymorphism of the DNA-loci met and D7S23, linked to the mucoviscidosis gene in human populations of the Volga-Ural region].

Data on allelic polymorphism of MET and D7S23 DNA loci linked to the human cystic fibrosis gene studied in three Bashkir ethnic groups and some Volga-Ural populations (Tartars, Maris, Mordovians, Udmurts, Chuvashs, and Komis) are presented. Udmurts were found to be substantially different from Bashkirs, Tartars, Mordovians, and Chuvashs by the allele frequency distribution observed for MET, while Komis and Bashkirs differed by this parameter from Mordovians and Maris. Comparative analysis of restriction fragment length polymorphism (RFLP) at the D7S23 locus revealed statistically significant differences in genotype frequencies between Bashkirs of the Arkhangel' skii region and populations of Mordva and Udmurtia.

[Restriction-deletion polymorphism of the mitochondrial DNA V-region in populations from the Volga-Ural region].

Data on the occurrence of deletion and the AvaII polymorphic site in the V region of mitochondrial DNA in the populations of the Volga-Ural region, including four ethnic groups of Bashkirs, Tartars, Chuvashs, Maris, Udmurts, Mordovians, and Komis are presented. The frequency of the 9-bp deletion ranged from 7.7% to 2.