[Analysis of polymorphism at nine nuclear genome DNA loci in maris].

Population genetic survey of the indigenous populations of the Marii El Republic, represented by the two major ethnographic groups of Maris, Meadow (five samples from Morkinsk, Orshansk, Semursk, Sovetsk, and Zvenigovsk districts) and Mountain (one sample from Gornomariisk district) Maris, was carried out. All Mari groups were examined at nine polymorphic DNA loci of nuclear genome, VNTR(PAH) (N = 422), STR(PAH) (N = 152), VNTR(ApoB) (N= 294), VNTR(DAT1) (N = 363), VNTR(eNOS) (N = 373), ACE (N = 412), IVS6aGATT (N = 513), D7S23(KM.19) (N = 494), and D7S8 (N = 366). Allele and genotype frequency distribution patterns were obtained for individual samples and ethnographic groups, as well as for the ethnic group overall. In each of six Mari samples examined, the deficit of heterozygotes was observed, i.e., the mean observed heterozygosity was lower than the expected one. The indices of mean heterozygosity, Hs = 0.455, and interpopulation differentiation, FST = 0.0024, for the Mari gene pool were obtained using a set of DNA markers analyzed. Analysis of the genetic distances and between population differentiation (FST) showed that the main part of genetic diversity in Maris was determined by the differentiation between the populations of Meadow Maris. The contribution of the differences between the ethnographic groups of Mountain and Meadow Maris to the ethnic gene pool was small. It is suggested that the main role in the formation of the Mari gene pool is played by the geographic factor.

[Analysis of the DRD4 gene polymorphism in populations of Russia and neighboring countries]. / Issledovanie polimorfizma gena DRD4 v populiatsiiakh Rossia i sopredel'nykh stran.

Allele and genotype frequencies of the VNTR polymorphism in the third exon of human DRD4 gene were determined in 544 individuals living in Russia (Russians, Bashkirs, Tatars, and Mordovians) and in the neighboring countries (Kazakhs and Ukrainians). The data obtained were compared with the allele frequency distribution patterns reported for the populations of Eurasia. Similarly to other Eurasian populations, in our population samples R4 allele was prevalent (64 to 87%). The frequency of this allele in the populations of Western Europe constitute 61 to 71%, while in the populations of Asia it varies from 74 to 96%. In this respect, the populations studied occupied the intermediate position. In the samples examined the R7 allele frequency decreased from 7% in Ukrainians to 1% in Bashkirs, while in Kazakhs and Mordovians the allele was absent. This finding was consistent with the R7 allele distribution pattern in the populations of Eurasia, characterized by higher frequency in the West and lower frequency or absence of the allele in the East. In the group of 22 Eurasian populations, the R7 allele frequency negatively correlated with the frequency of the R4 allele (r = -0.86 at P < 0.001). Unlike the R4 and R7 alleles, the frequency of which changed in the eastward direction, the R2 allele frequency distribution displayed slightly expressed latitudinal increase southwards. The DRD4 genotype distribution deviated from the equilibrium in most of the samples examined. In some samples, statistically significant increase of the R2/R2 homozygotes frequency was demonstrated. One of the possible explanations of this phenomenon is assortative mating with respect to phenotypic (behavioral) allele manifestation. The data obtained can serve as the basis for the investigation of the possible role of the DRD4 alleles as the risk factors for the development of alcoholism and other types of addictions.

[Association study of NcoI and TaqI A dopamine receptor D2 gene polymorphism in opium addicts]. / Analiz assotsiatsii NcoI and Taq A polimorfizma gena D2 retseptora dofamina s opiinoi narkomaniei.

The N2/N2 (NcoI) genotype of DRD2 gene is shown to be a marker of resistance to opium addiction, the N1/N1 genotype being considered as a risk marker for the disorder. The N1 allele was associated with opium addiction in Russian patients aged 16 years and younger at drug using onset. In Tatars, an association was found between the N1 allele and a risk of opium addiction development over 16 years of age. The N2/N2 genotype proved to be a marker of resistance to opium addiction in Tatars over 16 years of age at drug using onset. No association was found between TaqI A DRD2 polymorphism and opium addiction in the Russians and the Tatars.

[Association of the hSERT and SLC6A4 polymorphic markers of the serotonin transporter gene with schizophrenia in different ethnic groups]. / Assotsiatsiia polimorfnykh markerov hSERT i SLC6A4 gena perenoschika serotonina s schizofreniei u bol'nykh raznoi étnicheskoi prinadlezhnosti.

Insertion/deletion and VNTR polymorphisms of the serotonin transporter gene were tested for association with schizophrenia in patients varying in ethnicity. A difference in genetic predisposition was observed for continuous and shift-like schizophrenia forms, the former tending to be associated with genotype 12/12 in Tatars and L/L in Russians.

[VNTR polymorphisms of the serotonin transporter and dopamine transporter genes in male opiate addicts]. / Otsenka VNTR-polimorfizma v genakh perenoschikov serotonina i dofamina u muzhchin s opiinoi narkomaniei.

VNTR polymorphisms of the serotonin transporter (hSERT) and dopamine transporter (DAT1) gene were studied in male opiate addicts. Samples of ethnic Russians and ethnic Tatars did not differ in genotype and allele frequencies. Homozygosity at hSERT (especially 10/10) was associated with early opiate addiction, while genotype 12/10 proved to be protective. In the case of DAT1, genotype 9/9 was associated with early opiate addiction. The combination of hSERT genotype 10/10 with DAT1 genotype 10/10 was shown to be a risk factor of opiate abuse under 16 years of age.

[The analysis of serotonin receptor type 2A gene polymorphism in patients of different nationalities with acute alcoholic psychosis]. / Analiz polimorfizma gena 2A retseptora serotonina u bol'nykh s ostrym alkogol'nym psikhozom raznoi étnicheskoi prinadlezhnosti.

The analysis of Msp1 polymorphism (-1438G/A) in the promoter region of serotonin receptor type 2A (5HTR2A) gene has been conducted using polymerase chain reaction method in the men with an acute alcoholic psychosis of Russian and Tartar nationalities. The results obtained indicate the 5HTR2A gene is involved in development of the given pathology and allow to conclude that (1) 5HTR2A genotype's and allele's frequency distributions in Russians and Tartars do not significantly differ and correspond to those for the white Americans; (2) for the men of Russian nationality the genotype G/G is associated with the early onset of a chronic alcoholization and acute alcoholic psychosis development; (3) for the men older than 35 years of Russian and Tartar nationalities with genotypes carrying an allele G the relative risk of the given pathology is estimated as 5.81.

[Polymorphism of the dopamine transporter gene in populations of the Volga-Ural region]. / Polimorfizm gena perenoschika dofamina v populiatsiiakh Volgo-Ural'skogo regiona.

Polymorphism at the dopamine transporter gene (DAT1) in populations of the Volga-Ural region was examined by means of polymerase chain reaction. Statistically significant differences in the dopamine transporter gene allele and genotype frequency distribution were revealed both between the populations belonging to one ethnic group and between the populations from different linguistic families.

[The evaluation of VNTR-polymorphism in the gene of dopamine transporter in men of different nationalities with acute alcoholic psychosis]. / Otsenka VNTR-polimorfizma v gene perenoschika dofamina u muzhchin raznoi etnicheskoi prinadlezhnosti s ostrym alkogol'nym psikhozom.

VNTR-polymorphism of the gene of dopamine transporter (DAT) in men of the Russian and Tatar nationalities with acute alcoholic psychoses was analyzed by method of the polymerase chain reaction. There were no differences in the distribution of frequencies of genotypes and alleles of DAT gene between the populations examined. There was association between an allele variant with 9 units of DAT gene repetition (in homozygous state first of all), and early development of alcoholic dependence and acute alcoholic psychosis.

[Polymorphism of the serotonin 2A receptor gene in populations from the Volga-Ural region]. / Izuchenie polimorfizma gena 2A-retseptora serotonina v populiatsiiakh volgo-ural'skogo regiona.

The MspI restriction polymorphism of the serotonin 2A receptor gene (5HT2A) was typed in populations of the Volga-Ural region (Bashkirs, Chuvashes, Tatars, Udmurts, Maris, Mordovians, Komis, and Russians inhabiting the Republic of Bashkortostan). Population-specific patterns of the main polymorphism indices distribution were established. Specific trends in the changes of genotype and allele frequency of the 5HT2A gene depending on the ethnicity of the population were revealed.

[Polymorphism of the dopamine D2 receptor gene in populations from the Volga-Ural region]. / Polimorfizm gena D2-retseptora dofamina v populiatsiiakh Volgo-Ural'skogo regiona.

The PCR technique was used to analyze the TaqIA- and NcoI-polymorphisms at the dopamine D2 receptor gene (DRD2) in eight populations of the Volga-Ural region belonging to Turkic (Bashkirs, Tatars, and Chuvashes), Finno-Ugric (Maris, Komis, Mordovians, and Udmurts), and Eastern-Slavic (Russians) ethnic groups. Population-specific patterns of the main TaqIA- and NcoI-polymorphisms distribution were established. Specific trends in changes of genotype and allele frequency of the dopamine D2 receptor gene depending on the ethnicity of the population were revealed.

[The study of polymorphism of dopamine D2 receptor gene in men from different ethnic groups with acute alcoholic psychosis]. / Izuchenie polimorfizma gena D2-retseptora dofamina u muzhchin raznoi étnicheskoi prinadlezhnosti s ostrym alkogol'nym psikhozom.

The polymerase chain reaction of DNA synthesis was used to analyze the polymorphism of TaqI A and NcoI loci of dopamine D2 receptor gene (DRD2) in 170 Tatar and Russian males with acute alcoholic psychosis. No differences were found in the distribution of frequencies of genotypes and alleles of DRD2 gene between the populations. There were differences in the distribution of the frequencies of genotypes of the locus TaqI A and haplotypes of the gene DRD2 were revealed between patients and controls of the same nationality; moreover these differences were significant in the Russians. The findings suggest that alcoholics show a selection aimed at eliminating individuals with haplotypes who carry Al and N2 alleles and who are homozygous by one of these alleles. This may account for a decrease in the frequency of locus TaqI A genotypes carrying A1 allele, primarily A1/A1 homozygotes and for the loss of haplotypes of TaqI A and NcoI loci of the gene DRD2 -A1N1N2, A1A2N2 in men with acute alcoholic psychosis as compared with the controls.

[A study of polymorphism of the D2 dopamine receptor gene in the population of the Volga-Ural Region]. / Izuchenie polimorfizma gena retseptora dofamina D2 v populiatsiiakh Volgo-Ural'skogo regiona.

Using polymerase chain reaction (PCR), TaqI polymorphism for the D2 dopamine receptor gene (DRD2) was studied in eight populations of the Volga-Ural region that belong to the Turkic (Bashkirs, Tatars, and Chuvashes), Finno-Ugric (Maris, Komis, Mordvinians, and Udmurts), and Eastern-Slavonic (Russians) ethnic groups. Significant differences in the distribution of genotype frequencies were found between the Tatar population belonging to the Turkic branch of the Altaic linguistic family and the Mari and Mordvinian populations belonging to the Finno-Ugric branch of the Ural family and between the Tatar and Bashkir populations belonging to the Turkic ethnic group.

[Peculiarities of polymorphism in gene of serotonin transporter in men from different ethnic groups with acute alcoholic psychoses]. / Osobennosti poliforfizma v gene perenoschika serotonina u muzhchin raznoi étnicheskoi prinadlezhnosti s ostrym alkogol'nym psikhozom.

Analysis of polymorphism in locus of the gene of serotonin transporter (hSERT) was performed in men of Russian and Tatar nationalities with acute alcoholic psychoses by polymerase chain reaction. An absence of the differences in the distribution of the frequences of genotypes and alleles of hSERT gene was observed between populations examined, that corresponded to such values in Caucasians. An association was found between the allelic variations with 9 units of the repetitions of hSERT gene and an early onset of chronic alcoholization and development of acute alcoholic psychosis. Among the men, who developed acute alcoholic psychosis at the age over 35 there were significant differences in distribution of frequences of genotype of hSERT-gene between the populations. Genetic heterogeneity of such pathology in Russians and Tatars and impact of hSERT in the development of the disease in Tatars, are suggested.

[Polymorphism of the serotonin transporter gene in populations of the Volga-Ural region]. / Izuchenie polimorfizma gena perenoschika serotonina v populiatsiiakh Volgo-Ural'skogo regiona.

Polymorphism of the serotonin transporter gene (hSERT) was studied in eight human populations of the Volga-Ural region by means of polymerase chain reaction (PCR). The populations studied belonged to Turkic (Bashkirs, Tatars, and Chuvashes), Finno-Ugric (Maris, Komis, Mordovians, and Udmurts), and Eastern Slavic (Russians) ethnic groups. Comparison of the hSERT polymorphisms in these populations established the population-specific distribution patterns of the main component of this polymorphic system in the region studied and revealed the interethnic differences in hSERT allelic and genotypic frequencies.