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Research paper thumbnail of СООТНОШЕНИЕ ГЕНЕТИЧЕСКОЙ ИЗМЕНЧИВОСТИ И АНТРОПОГЕННОЙ СРЕДЫ. АНТРОПОЛОГИЧЕСКИЕ АСПЕКТЫ ПРОФЕССИОНАЛЬНОЙ ДЕЯТЕЛЬНОСТИ И ВОЗНИКНОВЕНИЕ ПРОФЕССИОНАЛЬНЫХ БОЛЕЗНЕЙ / CORRELATION OF GENETIC VARIABILITY AND THE ANTHROPOGENOUS ENVIRONMENT. ANTHROPOGENETIC ASPECTS OF OCCUPATIONAL

The present article concerns the actual problems of the genetic contribution in development of an... more The present article concerns the actual problems of the genetic contribution in development of an
occupational pathology among the persons working with various xenobiotics, and also communication of
disease with increasing level of global pollution of environment. Xenobiotics (harmful environmental substances,
medicines and their intermediate metabolites, pesticides, food additives, cosmetic means) are heterogeneous
agents for a normal metabolism and can lead to occupational or multifactorial illnesses. Own comparative
characteristics of discrete genetic polymorphism in representative samples sick of an asbestosis, silicosis,
fluorosis, production workers of considering pathological conditions steady against their development, and
also in control samples from Egoryevsk, Asbests, Novokuznetsk towns are resulted, etc. Polymorphisms in
the genes associating with a differential susceptibility of people to influence of separate metals and their
connections are investigated. The genetic effects shown at joint action of xenobiotics are discussed also.
The effect of polarization of frequencies of genotypes and alleles of a number of loci between cohorts of
subjects resistant and susceptible to environmental agents is revealed. The polarization in gene frequencies
in patients with occupational diseases and in healthy long-term workers should emphasized. The methods of
molecular_genetics allows to detect specific DNA-polymorphisms associated to sensitivity/resistance to some
occupational hazards. These results help to understand the pathogenesis of occupational diseases and
open new possibilities for preventive medicine. Following basic conclusions are formulated: 1) there is a
differential sensitivity of individuals to various environmental and to anthropogenous influences; 2) functional
inadequacy alleles of a concrete gene, causes quantitative distinctions in a gene expression; 3) the effect of
polyfunctionality of certain protein is revealed; 4) differential sensitivity also is connected with presence and
number rare alleles at individuals.

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Research paper thumbnail of Репродуктивная компенсация, как фактор, способствующий релаксации и изменению интенсивности отбора у человека /Reproductive compensation, as a factor promoting the relaxation and change of intensity of selection at the human populations

Анализ данных о младенческой смертности в регионах РФ в последние десятилетия выявил новые характ... more Анализ данных о младенческой смертности в регионах РФ в последние десятилетия выявил новые характерные особенности в воспроизводстве народонаселения. Авторы полагают, что падение младенческой смертности является проявлением действия репро
дуктивной компенсации на популяционном уровне.
Изучено распределение фенотипических и генных часто системы α1-антитрипсина среди коренных жителей Памира, проживающих на больших высотах. Обследованные киргизы Мургаба включают в своем составе преимущественно монголоидный компонент,
население долины р.Хуф на Западном Памире антропологически относится к южным европеоидам. У киргизов (N=102) выявлены следующие частоты генов PI: M1=0.6961; M2=0.2108; M3=0.0539; Z=0.0245; I=0.0049; S=0.0049; N=0.0049; у памирцев Хуфа (N=122):
M1=0.7910; M2=0.0943; M3=0.0984; Z=0.0082; I=0.0041; S=0.0041; у памирцев Пастхуфа (N=38): M1=0.7237; M2=0.1579; M3=0.1053; Z=0.0132.Одновременное биодемографическое обследование в популяции Мургаба показало, что в браках лиц, где один из супругов является носителем редкого варианта PI, отмечено статистически значимое увеличение благоприятных исходов беременностей (снижение выкидышей и мертворождений), а также
низкое число умерших детей. Результаты свидетельствуют о возможной репродуктивной компенсации, способствующей поддержанию генетического разнообразия по генам PI.

Th e analysis of the data about infantile death rate in diff erent regions of Russian Federations last decades has revealed new prominent features in population reproduction. Authors believe that
falling of infantile death rate is display of action of reproductive compensation at population level. Th e distribution of the phenotype of α1-antitrypsin among Pamir’s aborigenes localized at high altitudes was studied. Th e Kirgizes of Murgab studied include mainly the mongoloid
component in their composition. Populations of the Khuf river in West Pamir anthropologically belong to South caucasoids. Th e following frequencies of PI genes have been registered in Kirgizes
(N=102); M1=0.6961, M2=0.2108, M3=0.0539, Z=0.0245, I=0.0049, S=0.0049, N=0.0049; in the Khuf population (N=122) M1=0.7910, M2=0.0943, M3=0.0984, Z=0.0082, I=0.0041, S=0.0041;
in the Pastkhuf population (N=38): M1=0.7237, M2=0.1579, M3=0.1053, Z=0.0132. A parallels biodemographic investigation in the Murgab population shoved that couples, with one of the
partners carrying the rare variant of PI demonstrated statistically signifi cant increase in successful outcomes of pregnancies. Th e same cohort has displayed lover infant mortality rates, the absence of miscarried fetus and stillborn babies. Our results point to the possible existence of a mechanism of reproductive compensation serving to uphold the genetic diversity of PI genes.

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Research paper thumbnail of НОВАЯ ИНФОРМАЦИЯ О ГЕНОФОНДЕ ВОСТОЧНЫХ ХАНТОВ / NEW INFORMATION ABOUT GENE POOL OF EASTERN KHANTS

Results of population genetic study among eastern Khants from a collection of biological material... more Results of population genetic study among eastern Khants from a collection of biological material of
ecological genetics lab. RCMG were presented. On a wide range of biochemical-genetic markers (HP, TF,
GC, PI, ACP, PGM1, GLO1, ESD) and autosomal DNA polymorphisms (CHIT1, ABCC11,NOS3 ) among
Khantian population of Yugan and Agan rivers drainage-basins were analyzed. The gene pool of eastern
Khants includes characters peculiar to both for eastern Eurasian and western Eurasian populations. One of
the main objectives of our work was establishment of the ethnic anthropological importance «new» autosomal
DNA polymorphisms. High degree of CHIT1 polymorphism efficiency in the anthropological relation was
established. The share of western Eurasian genetic component in studied Khantian group forms 43.3% and
eastern Eurasian proportion was 56.7%. Our data about serological and biochemical genetic markers (AB0,
MN, RH, TF, GC, C’3, PI, ACP, PGM1, ESD, GLO1) allows to estimate genetic relationship between Khants
and neighboring and more remote Finno-Ugric and

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Research paper thumbnail of ПРОБЛЕМА ХРОНОЛОГИЧЕСКОЙ ПЕРИОДИЗАЦИИ В ЭВОЛЮЦИИ HOMO SAPIENS SAPIENS И КОНЦЕПЦИЯ КОМПЛЕКСНЫХ ИССЛЕДОВАНИЙ В ГЕНЕТИКЕ ЧЕЛОВЕКА / PROBLEM OF THE CHRONOLOGICAL PERIODIZATION IN HOMO SAPIENS EVOLUTION AND CONCEPT OF THE COMPLEX RESEARCHES IN HUMAN GENETICS

This review included own data is devoted to actual problem of a chronological periodization in Ho... more This review included own data is devoted to actual problem of a chronological periodization in Homo
sapiens evolution and to grounding of the complex researches concept with attraction of various scientific
disciplines. The new information on the human molecular genetics variability allows objectively examining
stages of the modern human formation. Point of view about the unequal taxonomical value of polymorphic
genes in the decision of questions to the Homo sapiens evolutionary history is emphasized. It isn’t obligatory
that the increase in number of genetic systems conducts to receiving more exact and reliable results in the
decision of modern human formation problems.
Dynamics of evolutionary processes in large groups of Homo sapiens with use taxonomical efficient
genetic markers, including APO E and Gm systems is considered. The analysis of the extensive database of
world and own data on APO E genotypes and alleles distributions showed that the APO E*4 is ancestral form
with the highest frequency is concentrated in peripheral populations of an ecumene. The extensive database
concerning the paleoanthropological finds of the Upper Paleolithic is attracted to the research. It is relies that
vectors of Homo sapiens sapiens spreading of East tropical Africa correspond to specific wave dynamics.
Formation of large population systems in the upper Paleolithic was determined by a series of consecutive
discrete waves in time.
Human evolution in space and time can’t be considered separately from influence of ambient environment.
Need of an integrated approach to its studying is emphasized. Modern data on the conjugated evolution of
Homo sapiens and endogenous retroviruses, and also materials on metagenomics and nutrigenomics are
provided in the survey article.

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Research paper thumbnail of СООТНОШЕНИЕ ГЕНЕТИЧЕСКОЙ ИЗМЕНЧИВОСТИ И АНТРОПОГЕННОЙ СРЕДЫ. АНТРОПОЛОГИЧЕСКИЕ АСПЕКТЫ ПРОФЕССИОНАЛЬНОЙ ДЕЯТЕЛЬНОСТИ И ВОЗНИКНОВЕНИЕ ПРОФЕССИОНАЛЬНЫХ БОЛЕЗНЕЙ / CORRELATION OF GENETIC VARIABILITY AND THE ANTHROPOGENOUS ENVIRONMENT. ANTHROPOGENETIC ASPECTS OF OCCUPATIONAL

The present article concerns the actual problems of the genetic contribution in development of an... more The present article concerns the actual problems of the genetic contribution in development of an
occupational pathology among the persons working with various xenobiotics, and also communication of
disease with increasing level of global pollution of environment. Xenobiotics (harmful environmental substances,
medicines and their intermediate metabolites, pesticides, food additives, cosmetic means) are heterogeneous
agents for a normal metabolism and can lead to occupational or multifactorial illnesses. Own comparative
characteristics of discrete genetic polymorphism in representative samples sick of an asbestosis, silicosis,
fluorosis, production workers of considering pathological conditions steady against their development, and
also in control samples from Egoryevsk, Asbests, Novokuznetsk towns are resulted, etc. Polymorphisms in
the genes associating with a differential susceptibility of people to influence of separate metals and their
connections are investigated. The genetic effects shown at joint action of xenobiotics are discussed also.
The effect of polarization of frequencies of genotypes and alleles of a number of loci between cohorts of
subjects resistant and susceptible to environmental agents is revealed. The polarization in gene frequencies
in patients with occupational diseases and in healthy long-term workers should emphasized. The methods of
molecular_genetics allows to detect specific DNA-polymorphisms associated to sensitivity/resistance to some
occupational hazards. These results help to understand the pathogenesis of occupational diseases and
open new possibilities for preventive medicine. Following basic conclusions are formulated: 1) there is a
differential sensitivity of individuals to various environmental and to anthropogenous influences; 2) functional
inadequacy alleles of a concrete gene, causes quantitative distinctions in a gene expression; 3) the effect of
polyfunctionality of certain protein is revealed; 4) differential sensitivity also is connected with presence and
number rare alleles at individuals.

Bookmarks Related papers MentionsView impact

Research paper thumbnail of Репродуктивная компенсация, как фактор, способствующий релаксации и изменению интенсивности отбора у человека /Reproductive compensation, as a factor promoting the relaxation and change of intensity of selection at the human populations

Анализ данных о младенческой смертности в регионах РФ в последние десятилетия выявил новые характ... more Анализ данных о младенческой смертности в регионах РФ в последние десятилетия выявил новые характерные особенности в воспроизводстве народонаселения. Авторы полагают, что падение младенческой смертности является проявлением действия репро
дуктивной компенсации на популяционном уровне.
Изучено распределение фенотипических и генных часто системы α1-антитрипсина среди коренных жителей Памира, проживающих на больших высотах. Обследованные киргизы Мургаба включают в своем составе преимущественно монголоидный компонент,
население долины р.Хуф на Западном Памире антропологически относится к южным европеоидам. У киргизов (N=102) выявлены следующие частоты генов PI: M1=0.6961; M2=0.2108; M3=0.0539; Z=0.0245; I=0.0049; S=0.0049; N=0.0049; у памирцев Хуфа (N=122):
M1=0.7910; M2=0.0943; M3=0.0984; Z=0.0082; I=0.0041; S=0.0041; у памирцев Пастхуфа (N=38): M1=0.7237; M2=0.1579; M3=0.1053; Z=0.0132.Одновременное биодемографическое обследование в популяции Мургаба показало, что в браках лиц, где один из супругов является носителем редкого варианта PI, отмечено статистически значимое увеличение благоприятных исходов беременностей (снижение выкидышей и мертворождений), а также
низкое число умерших детей. Результаты свидетельствуют о возможной репродуктивной компенсации, способствующей поддержанию генетического разнообразия по генам PI.

Th e analysis of the data about infantile death rate in diff erent regions of Russian Federations last decades has revealed new prominent features in population reproduction. Authors believe that
falling of infantile death rate is display of action of reproductive compensation at population level. Th e distribution of the phenotype of α1-antitrypsin among Pamir’s aborigenes localized at high altitudes was studied. Th e Kirgizes of Murgab studied include mainly the mongoloid
component in their composition. Populations of the Khuf river in West Pamir anthropologically belong to South caucasoids. Th e following frequencies of PI genes have been registered in Kirgizes
(N=102); M1=0.6961, M2=0.2108, M3=0.0539, Z=0.0245, I=0.0049, S=0.0049, N=0.0049; in the Khuf population (N=122) M1=0.7910, M2=0.0943, M3=0.0984, Z=0.0082, I=0.0041, S=0.0041;
in the Pastkhuf population (N=38): M1=0.7237, M2=0.1579, M3=0.1053, Z=0.0132. A parallels biodemographic investigation in the Murgab population shoved that couples, with one of the
partners carrying the rare variant of PI demonstrated statistically signifi cant increase in successful outcomes of pregnancies. Th e same cohort has displayed lover infant mortality rates, the absence of miscarried fetus and stillborn babies. Our results point to the possible existence of a mechanism of reproductive compensation serving to uphold the genetic diversity of PI genes.

Bookmarks Related papers MentionsView impact

Research paper thumbnail of НОВАЯ ИНФОРМАЦИЯ О ГЕНОФОНДЕ ВОСТОЧНЫХ ХАНТОВ / NEW INFORMATION ABOUT GENE POOL OF EASTERN KHANTS

Results of population genetic study among eastern Khants from a collection of biological material... more Results of population genetic study among eastern Khants from a collection of biological material of
ecological genetics lab. RCMG were presented. On a wide range of biochemical-genetic markers (HP, TF,
GC, PI, ACP, PGM1, GLO1, ESD) and autosomal DNA polymorphisms (CHIT1, ABCC11,NOS3 ) among
Khantian population of Yugan and Agan rivers drainage-basins were analyzed. The gene pool of eastern
Khants includes characters peculiar to both for eastern Eurasian and western Eurasian populations. One of
the main objectives of our work was establishment of the ethnic anthropological importance «new» autosomal
DNA polymorphisms. High degree of CHIT1 polymorphism efficiency in the anthropological relation was
established. The share of western Eurasian genetic component in studied Khantian group forms 43.3% and
eastern Eurasian proportion was 56.7%. Our data about serological and biochemical genetic markers (AB0,
MN, RH, TF, GC, C’3, PI, ACP, PGM1, ESD, GLO1) allows to estimate genetic relationship between Khants
and neighboring and more remote Finno-Ugric and

Bookmarks Related papers MentionsView impact

Research paper thumbnail of ПРОБЛЕМА ХРОНОЛОГИЧЕСКОЙ ПЕРИОДИЗАЦИИ В ЭВОЛЮЦИИ HOMO SAPIENS SAPIENS И КОНЦЕПЦИЯ КОМПЛЕКСНЫХ ИССЛЕДОВАНИЙ В ГЕНЕТИКЕ ЧЕЛОВЕКА / PROBLEM OF THE CHRONOLOGICAL PERIODIZATION IN HOMO SAPIENS EVOLUTION AND CONCEPT OF THE COMPLEX RESEARCHES IN HUMAN GENETICS

This review included own data is devoted to actual problem of a chronological periodization in Ho... more This review included own data is devoted to actual problem of a chronological periodization in Homo
sapiens evolution and to grounding of the complex researches concept with attraction of various scientific
disciplines. The new information on the human molecular genetics variability allows objectively examining
stages of the modern human formation. Point of view about the unequal taxonomical value of polymorphic
genes in the decision of questions to the Homo sapiens evolutionary history is emphasized. It isn’t obligatory
that the increase in number of genetic systems conducts to receiving more exact and reliable results in the
decision of modern human formation problems.
Dynamics of evolutionary processes in large groups of Homo sapiens with use taxonomical efficient
genetic markers, including APO E and Gm systems is considered. The analysis of the extensive database of
world and own data on APO E genotypes and alleles distributions showed that the APO E*4 is ancestral form
with the highest frequency is concentrated in peripheral populations of an ecumene. The extensive database
concerning the paleoanthropological finds of the Upper Paleolithic is attracted to the research. It is relies that
vectors of Homo sapiens sapiens spreading of East tropical Africa correspond to specific wave dynamics.
Formation of large population systems in the upper Paleolithic was determined by a series of consecutive
discrete waves in time.
Human evolution in space and time can’t be considered separately from influence of ambient environment.
Need of an integrated approach to its studying is emphasized. Modern data on the conjugated evolution of
Homo sapiens and endogenous retroviruses, and also materials on metagenomics and nutrigenomics are
provided in the survey article.

Bookmarks Related papers MentionsView impact