[Polymorphism of the dopamine D4 receptor (DRD4) and serotonin transporter (5-HTTL) gene promoter regions in African tribes of Hadza and Datoga].

Molecular genetic analysis of the allelic variants of the DRD4 and 5-HTTL gene promoter regions was performed in African tribes of Hadza and Datoga, characterized by different levels of socially acceptable aggression. It was demonstrated that Hadza and Datoga people differed in the structural organization of one of the 5-HTTL alleles (extra long allele xL). Analysis of the allele length polymorphism of both genes showed that in the Hadza and Datoga samples examined, variation parameters, as well as the genotype and allele frequency distribution pattern were almost the same. At the same time, analysis of the SNP polymorphism at the A/G substitutions of the 5-HTTL locus revealed a substantial decrease of the active allele L(A) frequency in the population of Hadza compared to the population of Datoga (chi2 = 3.77; d.f = 1; P = 0.052).

[Molecular structure of allelic variants of microsatellite loci Du281 and Du47 in unisexual and bisexual lizard species of the genus Darevskia].

Experimental data on the molecular structure and variability of microsatellite loci in unisexual and bisexual lizard species of the genus Darevskia were analyzed. The allelic variants of Du281 and Du47 were found to differ in the number of monomers, the structure of microsatellite clusters, and point mutations in these clusters and flanking DNA. Interspecific comparison of alleles of these loci revealed both variable regions in the microsatellite clusters and allele-specific evolutionarily conserved nucleotide groups. In general, the results of comparative structural analysis of allelic variants testify to a high genetic similarity of the unisexual and bisexual lizard species studied and reveals the characteristic features of their interspecies variability.

[Somatic mosaicism in mice detected using the RAPD-PCR method].

99 DNA samples of organs and tissues of 18 mice were examined using the method of PCR amplification with random primers. Among 27 oligonucleotide primers tested, 4 producing stable, well-reproducible profiles of amplification products were chosen for further analysis. Using 2 of these primers we detected differences in RAPD-profiles in some tissues in several individuals. These differences were associated with the modification of mobility, or with the fragment gain/loss in the RAPD profile, and could be caused either by genomic rearrangements, or mutations involving the regions of the DNA-primer pairing. Different epigenetic factors may also contribute to this process.

[Molecular and genetic characterization of allelic variants of microsatellite loci in parthenogenetic Caucasian rock lizards Darevskia armeniaca (Lacertidae)].

Using a pair of primers selected for the loci deltau 215, deltau 281, and deltau 323 of Darevskia unisexualis monolocus PCR analysis of orthologous loci was carried out in populations of the related parthenogenetic species D. armeniaca and in populations of bisexual parental species D. valentini and D. mixta. It was shown that the studied loci were polymorphic and represented in populations of D. armeniaca by several allelic variants. We cloned and sequenced PCR amplification products of the allelic variants of deltau 215, deltau 281, and deltau 323 loci. It was found that allelic differences of microsatellite loci were caused by variation in a number of tandem repeats in the microsatellite clusters and point mutations in the flanking regions. Interspecies comparison of the orthologous locus deltau 215 between parthenogenetic species D. armeniaca and parental species showed that two allelic variants of deltau 215 in D. armeniaca were inherited from the parental bisexual species D. mixta and D. valentini. The third allelic variant was not found in parental species and appeared because of mutation processes in genome of parthenospecies. For the first time, the information about the molecular nature of allelic polymorphism of these microsatellite loci of parthenogenetic species D. armeniaca was received in this study.

[Revealing of allelic polymorphism in the populations of parthenogenetic lizards Darevskia dahli (Lacertidae) using locus-specific PCR].

Locus-specific PCR was used to study the genetic polymorphism in three populations of parthenogenetic lizard species Darevskia dahli. The analysis was carried at the two (GATA)n-containing loci (Du215 and Du281) using the sample of 26 individuals. A total of eight Du215 and three Du281 allelic variants were detected. It was demonstrated that all the lizards examined were heterozygous at these loci. In 12 animals, unusual Du215 allelic variant was revealed, the origin of which was thought to be associated with different types of genomic rearrangements, or segmental duplication. The populations studied were substantially different relative to the levels of allelic polymorphism, which could be explained by different habitation conditions, leading to accumulation of mutations in noncoding genome regions.

[Detection of somatic mosaicism in humans using polymerase chain reaction with random primers].

Using the method PCR amplification with random primers, DNA samples from human embryonic organs and tissues were examined. Among 27 oligonucleotide primers tested, 10 primers, producing stable, well-reproducible profiles of amplification products, were chosen for further analysis. With the help of two primers (447 and R45), the differences in RAPD PCR profiles obtained from the tissues of one embryo, were revealed. These differences were associated with the change of mobility, or with the fragment gain/loss in the RAPD profile, and could be caused either by genomic rearrangements, or mutations involving the regions of the DNA-primer pairing. Different epigenetic factors, like methylation, can also play the role in this process.

[Finding of Bov-B LINE retroelement in parthenogenetic and bisexual lizard species of the genus Darevskia (Lacertidae)].

The Bov-B LINE retrotransposon was first discovered in Ruminantia and was long considered to be specific for this order. Later, this mobile element was described in snakes and some lizard species. Analysis of phylogenetic relationships of Bov-B LINE elements from different ruminants, snakes, and lizard species led to the suggestion on horizontal transfer of this retrotransposon from Squamata to Ruminantia. In the Squamata group, Bov-B LINE element was found in all snakes and some lizard species examined. The element was not detected in the genomes of some species of the genera Lacerta and Podarcis. In the present study, using PCR amplification and sequencing of PCR products, Bov-B LINE element was identified in the genomes of parthenogenetic and bisexual species of the genus Darevskia (Lacertidae), as well as in such species as Lacerta agilis and Zootoca vivipara, where this retrotransposon had not been not detected before.

[Immunogenetic blood markers as a risk factor of development of periodic disease in Armenian population].

AIM: To reveal characteristic associations between various markers of immunogenetic (HLA--A, B, C, DR), erythrocytic (ABO, Rh-Hr, MNSs, Pp, Kell-Chellano, Lewis), serum (Gm, Inv) systems and familial Mediterranean fever (FMF) in Armenian population. MATERIAL AND METHODS: From 41 to 125 patients (depending on systems studied) were examined. HLA-antigens of A-, B-, C-classes were detected by the microcytotoxic test in a total population of lymphocytes, HLA-DR antigens--by a prolonged test in B-lymphocytes, erythrocytic antigens--by hemagglutination technique and indirect Coombs' reaction, serum antigens--by the method of hemagglutination suppression. RESULTS: Confidential positive associative relations between antigens HLA-A1 and A9 (RR = 2.2 and 2.4), HLA B5 and B35 (RR = 3.03 and 3.2), HLA-Cw4 (RR = 4.3), HLA-DR3 (RR = 2.6), phenotypes AB (RR = 2.86) and MN (RR = 2.2), serum antigen Gmx+ (RR = 2.87) were demonstrated. Simultaneous expression of phenotype MN and antigen Gmx+ is a marker of high predisposition to the disease (RR = 4.7). Negative associative relations were found between FMF and antigens HLA-B12 and B18 (RR = 0.6 and 0.1), HLA DR4 (RR = 0.1) and phenotype MM (RR = 0.37). CONCLUSION: A simultaneous complex investigation of the markers of various immunogenetic systems allows detection of genetic markers of predisposition to FMF (HLA-B5, B35, Cw4, DR3, AB, Gmx+, MN) and the resistance to this disease (HLA-B12, B18, DR4) in a population of Armenians.

[Analysis of genetic variation in unisexual and bisexual lizard species of the genus Leiolepis from Southeast Asia].

Using multilocus DNA fingerprinting with microsatellite probes (CAC)5, (GACA)4, (GGCA)4 and (GATA)4, intraspecific variation of the Southeast Asian lizards belonging to the genus Leiolepis (bisexual species Leiolepis reevesii and triploid parthenogenetic species Leiolepis guentherpetersi) was first examined. The L. guentherpetersi lizards were characterized by monophyletic DNA fingerprint profiles for the loci detected by the (GACA)4, (GGCA)4, and (CAC)5 probes, in terms of intrapopulation similarity index constituting S = 0.96. This was different from the individual-specific profiles of the lizards from bisexual, presumably parental species, L. reevesii (S = 0.6; P < 0.001). Genetic homogeneity of triploid L. guentherpetersi lizards at the loci examined serves as one of the arguments for the parthenogenetic nature of this species. Genetic variability of triploid parthenogenetic species L. guentherpetersi appeared to be comparable with that reported earlier for the Caucasian rock lizards of the genus Darevskia, namely, D. dahlia, D. armeniaca, and D. unisexualis (P > 0.05). The results of DNA fingerprinting analysis of the same L. guentherpetersi samples with the (GATA)4 hybridization probe were unexpected. Variability of parthenogenetic species L. guentherpetersi at the (GATA)n markers was remarkably higher than that at other DNA markers (S = 0.35; P = 3.08 x 10(-11)), being comparable to the variation of the (GATA)n DNA markers in bisexual species L. reevesii (P = 0.74). The reasons for high polymorphism of the (GATA)n-containing loci in L. guentherpetersi still remain unclear. This polymorhism is probably associated with high instability of the loci, which can be revealed by means of family analysis of parthenogenetic offspring.

[Study of allelic polymorphism of (GATA)n-containing loci in parthenogenetic lizards Darevskia unisexualis (Lacertidae)]. / Izuchenie allel'nogo polimorfizma (GATA)n-soderzhashchikh lokusov partenogeneticheskikh iashcherits Darevskia unisexualis (sem. Lacertida).

The genesis of mini- and microsatellite loci, which is under extensive study in humans and some other bisexual species, have been virtually overlooked in species with clonal mode of reproduction. Earlier, using multilocus DNA fingerprinting, we have examined variability of some mini- and microsatellite DNA markers in parthenogenetic lizards from the genus Darevskia. In particular, mutant (GATA)n-restrictive DNA fragments were found in Darevskia unisexualis. In the present study, we examined intraspecific polymorphism of three cloned loci of D. unisexualis--Du323, Du215, and Du281--containing (GATA)7GAT(GATA)2, GAT(GATA)9, and (GATA)10TA(GATA) microsatellite clusters, respectively. Different levels of intrapopulation and interpopulation variability of these loci were found. Locus Du281 showed the highest polymorphism--six allelic variants (in the sample of 68 DNA specimens). Three alleles were found for locus Du215. The Du325 locus was electrophoretically invariant. The primers chosen for loci Du323, Du215, and Du281 were also used for PCR analysis of homologous loci in two presumptive parental bisexual species, D. valentini and D. nairensis. The PCR products of the corresponding loci of the parental species had approximately the same size (approximately 200 bp) as their counterparts in D. unisexualis, but the polymorphism levels of the paternal, maternal, and hybrid species were shown to be somewhat different. These data on the structure of the D. unisexualis loci provide a possibility to study genetic diversity in the parthenogenetic species D. unisexualis and other related unisexual and bisexual species of this genus, which can provide new information on the origin of parthenogenetic species and on the phylogenetic relationships in the genus Darevskia. These data can also be used for resolving problems of marking the lizard genome, which is still poorly studied.

[Superinstability (TCT/TCC)n of microsatellite DNA in parthenogenetic lizards Darevskia unisexualis (family Lacertidae)]. / Supernestabil'nost' (TCC/TCC)n mikrosatellitnykh DNK u partenogeneticheskikh iashcherits Darevskia unisexualis (sem. Laceridae).

Using multilocus DNA fingerprinting, we have examined variability of (TCT)n microsatellite and M13 minisatellite DNA repeats in populations, families, and tissues of Caucasian parthenogenetic rock lizards Darevskia unisexualis (Lacertidae). It has been shown for the first time that population and family DNA samples of D. unisexualis (75 samples in total) have individually specific DNA fingerprinting patterns of (TCT)n fragments. Analysis of inheritance of (TCT)n microsatellites in 46 first-generation progeny in 17 parthenogenetic D. unisexualis families revealed their extremely high instability. Mutant TCT fingerprint phenotypes were found in virtually each animal of the progeny. Moreover, varying fragments in the progeny and their original variants in the mothers were shown to simultaneously contain (TCT)n and (TCC)n polypyrimidine clusters. At the same time, no variability of (TCT)n fragments has been detected in the tissues and organs of mature parthenogenetic lizards and in the analogous tissues of the two-week-old progeny of this year. This suggests the absence of somatic mosaicism and methylation of the corresponding loci in the samples. Along with the hyperinstability of (TCT/TCC)n polypyrimidine clusters, we have shown that the population and family DNA fingerprinting patterns of M13 minisatellites were invariable and monomorphic in the same DNA samples of D. unisexualis. Our results indicate that mutations at loci containing polypyrimidine microsatellites significantly contribute to the total genomic variability of parthenogenetic lizards D. unisexualis.

[Variation of mini- and microsatellite DNA repeats in parthenogenetic lizard Darevskia armeniaca as revealed by DNA fingerprinting analysis]. / Fingerprintnyi analiz variabel'nosti mini- i mikrosatellitnykh povtorov DNK u partenogeneticheskikh iashcherits Darevskia armeniaca.

Population and family samples of two morphological forms (mutant and normal with respect to dorsal color) of pathogenetic lizard Darevskia armeniaca were examined by means of DNA fingerprinting using M13 mini- and (GATA)n and (TCC)n microsatellite DNA markers. The morphological forms examined were characterized by clonally inherited, species-specific patterns of the DNA markers, which were different from the species-specific DNA fingerprints of the other parthenogenetic species of the genus Darevskia (D. dahli. D. unisexualis, and D. rostombekovi). The mean index of similarity (S) obtained for a sample of 36 individuals from three isolated populations using three types of DNA markers was 0.966. This was similar to the variability level observed in D. dahli (0.962) (P > 0.05), but higher than that in D. unisexualis (0.950) (P < 0.05) and D. rostombekovi (0.875) (P < 0.01). Inheritance of M13 minisatellite and (TCC)n microsatellite DNA markers in the F1 offspring of parthenogenetic lizards was examined. It was shown that variability and clonal diversity of the fingerprint phenotypes observed in the populations and families of D. armeniaca could be at least partly explained by RFLP mutations in microsatellite repeats.

[Distribution of HLA antigens in the armenian population of Nagornyi Karabakh]. / Raspredelenie antigenov sistemy HLA v populiatsiiakh armian Nagornogo Karabakha.

Characteristics of the distribution of 31 HLA antigens of classes I (A, B, and Cw) and II (DR) in Nagornyi Karabakh Armenians are reported for the first time. It has been found that the antigens most common in this population are A2, A3, A9, B5, B7, B12, Cw4, DR4, DR2, and DR3; the least common antigens are B15, B16, and B40. The results are compared with the data for Armenians living in Armenia and those for major ethnic groups. The frequencies of HLA antigens in Nagornyi Karabakh Armenians match those in Armenians living in Armenia. In the HLA-antigen distribution, Armenians are generally close to Caucasoids.

[Variation of mini- and microsatellite DNA markers in populations of parthenogenetic rock lizard Darevskia rostombekovi]. / Izmenchivost' mini- i mikrosatellitnykh markerov DNK v populiatsiiakh partenogeneticheskoi skal'noi iashcheritsy Darevskia rostombekovi.

Variation and clonal diversity in populations of the parthenogenetic rock lizard Darevskia rostombekovi was examined by means of multilocus DNA fingerprinting using mini- and microsatellite DNA markers M13, (GATA)4, and (TCC)50). The animals examined were shown to exhibit a clonally inherited, species-specific pattern of DNA markers (fingerprint profile) that is different from the species-specific patterns of parthenogenetic species D. dahli, D. armeniaca, and D. unisexualis. The mean intraspecific similarity index S was 0.950 (0.003) for a sample of 19 animals from three isolated populations of North Armenia. This significantly differed from the estimate of this parameter for a sample of 21 animals including two individuals from mountainous, relict population from the vicinity of the Sevan Lake, which was equal to 0.875 (0.001). A comparison of DNA fingerprints showed differences between 21 individuals attaining 79 DNA fragments of 1801 mini- and microsatellite markers included in the analysis. The results obtained show that intraspecific variation in D. rostombekovi is higher than that in the previously studied parthenogenetic species D. dahli (S = 0.962) and D. unisexualis (S = 0.950) (P < 0.001). Taking into account that D. rostombekovi is considered monoclonal on the basis of allozyme data, the problem of clonal variability is discussed with regard to the evidence on nuclear DNA markers. It is suggested that the hybrid karyotype of D. rostombekovi, which is more unstable than that of D. dahli and D. unisexualis, generates a series of chromosomal rearrangements (mutations). This may lead to the appearance of a geographically isolated chromosomal race (clone) in the population inhabiting the southeastern coast of the Sevan Lake.

[Increased variability of (TCC)n microsatelline loci in populations of the parthenogenetic lizard Lacerta unisexualis Darevsky]. / Povyshennaia variabel'nost' (TCC)n mikrosatellitnykh lokusov v populiatsiiakh partenogeneticheskogo vida iashcherits Lacerta unisexualis Darevsky.

In four isolated populations of parthenogenetic Caucasian rock lizard Lacerta unisexualis, variability of (TCC)n loci was examined using multilocus DNA fingerprinting. Unexpectedly high variability of (TCC)n microsatellites was found in all four populations. The mean similarity index was 0.825, which is higher than similarity estimates obtained for other mini- and microsatellite loci in L. unisexualis and parthenogenetic species L. dahli and L. armeniaca studied earlier. The high variation level of (TCC)n loci was shown to be at least partially associated with the presence of a diverged (TCC)n sequence fraction in the L. unisexualis genome. Mutations at some other genetically unstable (TCC)n loci may cause their structural diversity in populations of L. unisexualis.

[Variability of GATA-microsatellite DNA in populations of the parthenogenetic species of lizard Lacerta unisexualis Darevsky]. / Variabel'nost' GATA-mikrosatellitnykh DNK v populiatsiiakh partenogeneticheskogo vida iashcherits Lacerta unisexualis Darevsky.

Multilocus DNA fingerprinting was used to analyze the genome variation of mini- and microsatellite DNA regions in parthenogenetic Caucasian rock lizard Lacerta unisexualis. The DNA fingerprints obtained with probe M13 were nearly identical in all populations examined (the average similarity index S = 0.992). The fingerprints obtained with probe (GATA)4 varied (S = 0.862). Polymorphic fragments were assumed to correspond to allelic variants of genetically unstable GATA loci. Comparison of the fingerprints of animals from four geographically isolated populations revealed several population-specific GATA microsatellite markers. Based on their distribution among the populations, the corresponding alleles were assumed to originate from a common ancestral allele.

[Immunogenetic markers of erythrocyte systems in Armenians of Nagornii Karabakh]. / Izuchenie immunogeneticheskikh markerov éritrotsitarnykh sistem u armian Nagornogo Karabakha.

Frequencies of antigens of erythrocytic systems Rh-Hr, MNSs, Pp, Kidd, Duffy, Kell-Chellano, and Lewis were studied in the indigenous Armenian population of Nagornyi Karabakh with regard to all possible genotypes. The results were compared with those obtained for populations of the Caucasus, Europe, and Asia. In general, the studied population had a typical Caucasoid gene system.

[An analysis of the associational connections of immunogenetic blood markers with lymphogranulomatosis in Armenians]. / ANaliz assotsiativnykh sviazei nekotorykh immunogeneticheskikh markerov krovi s limfogranulematozom u armian.

A study of 11 immunogenetical blood systems (HLA-A, B C, DR; ABO; Rh-Hr; MNSs; Kidd; Kell-Chellano; Duffy; Lewis; Diego; Gm; Inv) involving 59 antigens was performed in patients of Armenian nationality with lymphogranulomatosis (LGM). Pathogenic associations of HLA, MNSs and Duffy systems with LGM were established. Positive correlations were found (p < 0.001) with HLA phenotypes DR-8, B-14, B-21, SS, Fy(a+b-). These phenotypes have significant correlation with LGM (RR = 4.7-2.1) and can be considered as genetic markers of LGM in the Armenian population.