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Biomedical subjects

E K Ginter

Publications and source records attributed to E K Ginter.

At least 109 records · Page 6Linked to original sources
PubMed1986

[Medico-genetic study of the Uzbekistan population. X. Hereditary forms of hearing impairment in the Khorezm and Samarkand regions].

Medical-genetic study in some populations of Khorezm (about 200,000) and Samarkand (about 56,000) provinces was performed with the view of identification of all family cases of deafness and deaf-mutism. 53 families with 140 affected patients were registered, in total. 8 nozological forms were found in this study, the most frequent being autosomal-recessive ones (6 nozological forms, 48 families, 122 patients). The autosomal-dominant forms were represented by 2 nozological forms (5 families with 18 patients). The reason for predominance of autosomal-recessive deafness in Uzbek population is discussed.

Genes, Dominant↗
PubMed1985

[Medical genetics study of the population of Kostroma Province. II. The diversity of hereditary pathology in 5 districts of the province].

The diversity of hereditary pathology in 5 regions of Kostroma district was studied. 32 nosological forms of autosomal dominant, 30 autosomal recessive and 7 X-linked recessive disorders were found. The most frequent autosomal dominant disorders were: neurofibromatosis, pigmentary degeneration of retina, hypochondroplasia, ichtiosis, idiopathic scoliosis. The most frequent among the autosomal recessive disorders were: oligophrenia, pigmentary degeneration of retina, muscular atrophy of juvenile Kugelberg--Welander type, congenital cataract. The most frequent X-linked disorders were: muscular Duchenne type dystrophy and hemophilia A. Analysis of mutant gene distribution over the territory by the study of birthplaces of probands and their parents was carried out.

Chromosome Aberrations↗
PubMed1985

[Medico-genetic study of the population of Kostroma Province. I. The population burden of hereditary pathology].

Data on the prevalence of hereditary diseases in five regions of the Kostroma province were obtained and analysed. It was shown that the ascertainment was close to the truncate selection for the rural population and to the single selection for the urban population. Segregational analysis proved the rightness of the material subdivision, according to the type of inheritance. The load of hereditary diseases (for the registered forms) in the population was: 0.78 +/- 0.08 X 10(-3) for autosomal dominant, 0.75 +/- 0.08 X 10(-3) for autosomal-recessive and 0.54 +/- 0.1 X 10(-3) for X-linked recessive disorders. The dynamics of the load of hereditary diseases in the populations with different structure is discussed.

Female↗
PubMed1985

[Medical genetic study of the population of Turkmenia. VI. Intrapopulation variability from an analysis of marriage migrations and ABO and Hp marker systems].

By the sampling procedure, the distribution of phenotypic and genotypic frequencies of ABO and Hp systems and the structure of intermarriage migration in Turkmen population was studied. The geographical subdivision of the Turkmen population coincided with its ethnic divergency. The main Turkmen tribes are highly isolated (the gametic index is 0.965 to 1.0) and the differences in gene frequencies between tribes are significant. The mean gene frequencies for the ABO system in the Turkmen population are: I0-0.5373, IA-0.2601, IB-0.2025, these being Hp1-0.284, Hp2-0.716 for the Hp system.

ABO Blood-Group System↗
PubMed1984

[Medico-genetic study of the population of Turkmenia. IV. The population geography of hemoglobinopathies].

Large-scale screening for hereditary haemoglobinopathies in five districts and among main Turkmen tribes was carried out. The frequencies of ABO and HP pheno- and genotypes were determined in the same populations. The different kinds of haemoglobinopathies genes were discovered (beta +, beta 0-thalassemia, alpha beta-thalassemia, alpha-thalassemia, HPFH, haemoglobins D and E). The geographic and ethnic differentiation of Turkmen population for beta-thalassemia géne was discovered. The FST values were found to be the same for ABO, Hp and beta-thal gene systems. The role of genetic drift in differentiation of Turkmen population is discussed.

ABO Blood-Group System↗
PubMed1984

[Medico-genetic study of the population of Turkmenia. V. A population and demographic description of the Nokhur isolate].

The paper deals with demographic, genealogical and genetic characterization of one Turkmenian isolate--"Nochur". The data on its load of hereditary diseases were published previously. The Turkmenian "Nochurly" tribe consists of 19 large and small clanes. 600 nuclear families live in a small mountain valley of the same name. The share of prereproductive age class is 60%, of reproductive class--29%, this value for postreproductive class being 11%. The average number of children per family, when the families have completed their reproductive period, is 6.84. The average duration of generation (the mean parental age to the birth time of a mean newborn) is 37.7 and 31 years for a man and woman, respectively. Immigration into Nochur is practically absent, there is a flow of emigrants to the capital of the Republic, Ashkhabad. A very high level of assortative mating has been noted, the minimal estimation of inbreeding coefficient being 0.033 (the pedigree) and the maximal--0.0529 (isonimy). Diminishing of the number of lethal equivalents between 1940-1965 and 1966-1980 was discovered. This can be explained by a decrease in natural selection pressure. The data on distribution of genetic markers of the ABO, MN, Rh, Hp and Pp systems within this isolated population are presented.

Adolescent↗
PubMed1983

[Medical genetic study of the population or Turkmenia. II. The population structure of the inhabitants of the rural soviet Izgant, Geok-Tepe District, Ashkhabad Province].

This report is devoted to the populational description of the Ashkhabad district. Examination of one of the typical agricultural villages (Izgant of the Ashkhabad district) gave the main parameters of the population. The total number of the inhabitants studied is 1596, the proportion of the studied is 56%, the average family size for the parent with completed reproduction period being 5.47, the average generation time - 33 to 38, the gametic index - 0.67 and the inbreeding coefficient - 0.002267. The distribution of some markers (ABO, MN, Hp, Rh, Pp) have been studied. A rather low coefficient of inbreeding, as a result of the absence of geographical isolation, may account for incidence of autosomal recessive disorders.

Adolescent↗
PubMed1983

[Medical genetic study of the population of Turkmenia. III. Hereditary pathology in Turkmen Nokhurlis].

Medical-genetic investigations were carried out in isolated population of Nokhurlis inhabiting some villages of Ashkhabad and Krasnovodsk provinces. A high coefficient of inbreeding, high endogamy, and low coefficients of migration were found for this population. Two hereditary disorders are relatively frequent among the Nokhurlis and lacking in neighboring populations. The frequency of the autosomal dominant gene for congenital cataract is 0.26% and that of the autosomal recessive gene for a peculiar form of obesity is 2.47%. In both cases, the main factor affecting gene accumulation appears to be the result of genetical drift effect. The total load of hereditary diseases of higher in Nokhurlis than in other Turkmen populations. The connection between the population structure of Nokhurlis and the accumulation of hereditary disorders is discussed.

Adolescent↗
PubMed1982

[Medical genetic study of the population of Turkmenia. II. Study of the distribution of hereditary pathology in 5 regions of Tashauz Province].

The large-scale screening for hereditary diseases in five regions of the Tashauz province was carried out. More than 50 families represented by persons with different nosological forms of hereditary diseases, were found. The role of drift in rare mutant gene dynamics was shown. The load of hereditary diseases was mainly connected with autosomal recessive forms and shown to vary between the regions from 0,34 to 1,29 pro mille.

Chromosome Aberrations↗
PubMed1980

[Medico-genetic study of the population of Turkmenistan. I. Hereditary diseases in 5 districts of the Ashkabad region].

Medico-genetic characteristics of the Ashkhabad province of Turkemenia are given. 23 nosological forms of hereditary diseases were found. The population load estimated per 1000 of autosomal-recessive (AR) diseases was 0.7, autosomal-dominant (AD) - 0.4, X-linked - 0.5. Inbreeding coefficient for the families with AR pathology was 0.03529, with AD - 0.01172. The study of territorial distribution of hereditary disease detected slightly marked local accumulation of certain forms of hereditary diseases.

Chromosome Aberrations↗
PubMed1979

[Medico-genetic study of the population of Uzbekistan. VI. Hereditary pathology among the populations of 4 regions of the Kashkadarinskaia area].

The screening for families burdened with multiple cases of non-infectious diseases, the diagnostic of those diseases and the investigation of relations between the population structure and the distribution of hereditary diseases in 4 districts of the Kashkadarja province were carried out. On the basis of the data obtained the load of excessive hereditary diseases was calculated and nosological spectrum was described; it included more than 30 different diseases. The study of spatial distribution of recessive diseases has shown that the load of hereditary diseases may be accounted for the positive assortative matings. The high level of interpopulation migration prevents from the local accumulation of a certain hereditary disease.

Genes, Dominant↗