Conference devoted to the 90th anniversary of Alexei A. Lyapunov

Akademgorodok, Novosibirsk, Russia, October 8-11, 2001,
(state registration number 0320300064)

Abstracts


Information biology

The database "PORTLAND - GENETICS": epidemiology of multifactorial diseases, heritable diseases and inherent defects of development

Krikunova N.I., Shirokov B.V., Nazarenko L.P., Minaicheva L.I., Chernih V.G.

Institute of Medical Genetics Tomsk Scientific Center Russian Academy of Medical Sciences (Tomsk)

The microevolutionary processes, with which we collide at stady various populations of animal and plants, to the full save the importence and for the man. In conditions of sharply varying environment and intensification migration of processes in populations of the man presevation of the genetic status Homo sapiens as biological species generated during long historical development, attracts general attention. This problem is closely interlinked to protection of a heredity of the man in conditions of pollution and degradation of an environment, estimation of health of the man and genetic cargo (viability of populations in time).

The quantitative estimation of the contribution of the factors of microevolution in genetic dynamics of human populations at the present stage of their development is a uneasy task. As the random drift of genes has lost past significance, on the foreground are put the mutation process, mutations and selection. The solution of this problem is connected with the answer to a question, in what measure already changes, having place in biosphere, could affect volume of a mutation cargo in populations of the man? The organization of information databases in view of principles of genetic monitoring, i.e. long-term keeping track of by dynamics of a heritable burdeness of a human population somewhat promotes solution of these problems. In the database "PORTLAND - GENETICS" the results 23 - years epidemiological research of heritable diseases and inherent defects of development in Tomsk area represented. The nosological spectrum and frequency of a heritable pathology in the dynamics is investigated. The genetic monitoring is carried out on the basis of the account on a clinical level of phenotype variations and diseases. The database allows to systematize and to save the genetic demographic items of information on families with multifactorial and heritable pathology, to describe phenotype of a feature of a proband, in detail to write item of information about industrial, home factors, with which during life the parents collided, grandfathers and grendmothers, great-grandfathers and great-grandmothers proband, to take into account duration of their residing in the polluted territories and obtained exposure dose. The frame of the database allows to save the items of information about mutation effects for descendants from the people which have undergone radiative and chemical effect, which are snow by increase of frequency of spontaneous abortions and premature births, inherent defects of development, stillborns, early children's mortality.

Thus, in the present moment the database allows to estimate a heritable burdeness of human populations, which live in various climatic, geograpphical conditions, and, probably, are exposed various ecological to effects. The applied aspect of genetic monitoring exercised on the basis of the information database "PORTLAND - GENETICS", is bound to carrying out of prophylaxis of diseases on a basis of medicogenetic consultation and creation of bank DNA of families with a heritable pathology.

Note. Abstracts are published in author's edition



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