RESUMO
Ancient DNA analyses help to solve the problems related to the genogeographic origin and migration patterns of populations. The Khazar Khaganate is a subject of controversy among researchers. Its complex historical development, lack of a sufficient number of artistic and written sources, the disappearance of representatives of Khazar culture leaves open the question of the appearance of the Khazars. DNA phenotyping of bone remains from elite burials of the Khazar period of Southern Russia was carried out with respect to eye color, hair color, skin color, and AB0 blood groups. Eight out of 10 individuals had brown eyes, dark hair (to varying degrees), and a predominantly dark skin during their lifetime. Individuals from two burials had gray-blue eyes, and one individual had blond hair. The most probable AB0 blood group was identified in eight people, of which five blood group 0 (I) group, four had blood group A (II), and one had blood group B (III). The allele frequency distribution was assessed for ten population-specific autosomal markers and suggested high heterogeneity for the ethnogeographic origin of the Khazars examined. The results are evidence for ethnocultural, genetic, and phenotypic diversity of the Khazar Khaganate.
Assuntos
Antígenos de Grupos Sanguíneos , Cor de Olho , Humanos , DNA/genética , Sepultamento , Federação RussaRESUMO
The woolly mammoth mitochondrial genome (including the Malolyakhovsky mammoth) has been previously sequenced, followed by the annotation of all its genes (MF770243). In this study, based on the Malolyakhovsky mammoth, we describe for the first time the sites of functional significance in the control region of the woolly mammoth mitogenome.
Assuntos
DNA Mitocondrial/genética , Fósseis , Genoma Mitocondrial/genética , Região de Controle de Locus Gênico/genética , Mamutes/genética , AnimaisRESUMO
The objective of the present experimental molecular-genetic study of DNA contained in of human fingerprints was to establish the relationship between the reference genetic profiles and the genotypes of the individuals leaving their fingerprints on a smooth metal object. The biological material for the purpose of the investigation was sampled at different time intervals. The were taken using a scotch tape and used to obtain the complete genetic profile immediately after the fingerprints had been left as well as within the next 24 hours and one week. It proved impossible to identify the complete genetic profile one month after the fingerprints had been left. The alleles not typical for reference samples were identified within one week after swabbing the material from the metal surface. The results of the sudy can be explained by the decrease of the concentration of the initial DNA-matrix in the samples due to its degradation in the course of time. It is concluded that the parallel genetic analysis is needed if reliable evidence of identity of the profiles of interest or its absence is to be obtained.
Assuntos
Dermatoglifia , Testes Genéticos/métodos , Suor/fisiologia , Genética Forense/métodos , Humanos , Manejo de Espécimes/métodosRESUMO
The objective of the present work was to develop the forensic medical criteria for the assessment of the significance of hereditary predisposition to thrombophilia in the case of thrombotic complications of a mechanical injury. The results of analysis of the frequency of genes responsible for hereditary predisposition to thrombogenesis (FII, FV, MTHFR, FGB, PAL-1) among the victims of mechanical injuries are presented. A total of 251 subjects were available for the examination. They were divided into 4 groups as follows: the subjects presenting with deep venous thrombosis in the lower extremities (DVTLE) after the injury (group 1), subjects with DVTLE without the preceding trauma (group 2), those with an injury to the locomotor apparatus without a subsequent thrombotic complication (group 3), and practically healthy persons (group 4). It was shown that the subjects of group I had the highest frequency of mutations and polymorphisms of MTHFR and PAl-1 genes. It is concluded that genetic typing for the detection of mutations in these two genes is indispensable for the subjects presenting with thrombotic complications after mechanical injuries to the locomotor organs.
Assuntos
Genética Forense , Predisposição Genética para Doença , Traumatismos da Perna/complicações , Complicações Pós-Operatórias/genética , Embolia Pulmonar/genética , Trombose Venosa/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Estudos de Casos e Controles , Feminino , Frequência do Gene , Testes Genéticos , Humanos , Traumatismos da Perna/cirurgia , Masculino , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Pessoa de Meia-Idade , Inibidor 1 de Ativador de Plasminogênio/genética , Polimorfismo de Nucleotídeo Único , Complicações Pós-Operatórias/etiologia , Embolia Pulmonar/etiologia , Trombose Venosa/etiologia , Adulto JovemRESUMO
In order to confirm the taxonomic position of environmental strains determined based on their biochemical, cultural, andmorphological characteristics, molecular genetic identification was carried out. A number of problems in identification of microorganisms were shown to be associated with contamination of the cultures in the course of isolation. Advantages of a comprehensive approach, combining 16S rRNA gene sequencing with a set of biochemical, cultural, and morphological parameters; for identification of microorganisms isolated from environmental objects and clinical samples are discussed.
Assuntos
Bactérias , Técnicas de Tipagem Bacteriana/métodos , Ecossistema , RNA Bacteriano/genética , RNA Ribossômico 16S/genética , Bactérias/classificação , Bactérias/genética , Bactérias/isolamento & purificação , Bactérias/metabolismo , RNA Bacteriano/metabolismo , RNA Ribossômico 16S/metabolismoRESUMO
We have studied the samples of dry blood immobilized on the FTA cards following a 15-year period of their storage at room temperature. The DNA preparations were obtained based on the protocol recommended by the manufacturer including washing up with the FTA reactant and in parallel by means of complete extraction with the use of robotic stations. The preparations were compared in terms of the content of amplificationally active DNA and the effectiveness of typing STR-loci of chromosomal DNA. The complete genetic profile was derived only from 41 (82%) of the 50 FTA cards with immobilized blood samples available for the investigation that had been treated with the FTA reactant and stored during 15 years at room temperature. In 9 (18%) cases, incomplete genetic profiles were obtained that were characterized by the absence of PCR-products, as well as missing of true alleles and the presence of pseudoalleles. Such poor results are supposed to be attributable to the occurrence of the residual inhibitors of DNA-polymerase activity due to the incomplete purification of the samples. This disadvantage was overcome by the application of robotic stations for the total DNA extraction. This approach made it possible to obtain the acceptable genetic profiles for each blood samples stored at the FTA cards during 15 years. Nevertheless, even these preparations exhibited the reduced matrix activity of high molecular weight SRT-loci. This observation suggests that long-term storage of dry blood samples on FTA cards at room temperature does not guarantee the absence of degradation of their DNA.