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Biomedical subjects

E K Ginter

Publications and source records attributed to E K Ginter.

At least 127 records · Page 7Linked to original sources
PubMed1978

[Medico-genetic study of the population of Uzbekistan. IV. Medico-genetic description of the population of 4 villages of the Urgut district of the Samarkand region].

The data about the incidence of hereditary diseases and those with genetic predispositions which received after subtotal medico-genetical examination of the inhabitants of 4 villages in the Urgut district of the Samarkand province are presented. 848 inhabitants (348 adults and 464 children aged 7--16 years) are examined. The nosological profile of the morbidity and spectrum of the Mendelian diseases in the population is evaluated. The integrative estimate of load of the detrimental (non-lethal) genes is about 0.166 per individual.

Adult↗
PubMed1977

[Medico-genetic study of the population of Uzbekistan. I. Incidence and variety of hereditary pathology].

In district of the Samarkand province the screening for families burdened with multiple cases of non-infectious diseases was performed. The principles of the applied screening procedure are described in the present paper. In the course of clinical examination 98 families were detected, 55 of which included more than one person suffering presumably with Mendelian diseases and 43--with multifactorial disorders. Over 30 nosological forms were found, among which orthopaedic and neurological forms were the most frequent. As a rule, identical cases were detected in one or two families. The role of certain genetic processes in the distribution of hereditary diseases in the Uzbek population is discussed.

Genetic Diseases, Inborn↗
PubMed1977

[Medico-genetic study of the population of the Samarkand region. II. Population-genetic description of 4 kishlaks of the Urgut district].

This report is a second one in a series of works devoted to the medico-genetical screening of Uzbekistan populations. The paper comprises the results of the analysis of the populational structure of one of the village councils (soviets) of the Urgut District of the Samarkand Region. The main parameters of the population studied were as follows: total number 1529 persons, the average number of inhabitants of one village--328. The proportion of the inhabitants studied--56%, the average number of persons per family--5.22; the average period between subsequent generations--30-35 years, the gametic index--0.8, the inbreeding coefficient inferred from pedigrees--0.018899--0.00781, Fst = 0.03577, the average genetic distanse according to Edwards--0.0231-0.0671. The distribution of Mendelian markers (ABO, Rh, Hp and Ptc) was studied. The observed ratio between a high degree of inbreeding and a relatively low extent of isolation of populations permits to explain satisfactorily the distribution and frequencies of hereditary pathology in the Urgut District of the Samarkand Region pointed out in the previous report.

Adolescent↗
PubMed1977

[Medico-genetic study of the population of Uzbekistan. III. Phenotypical assortativity as a factor in population structure (using palmoplantar hyperkeratosis and vitiligo as examples)].

The article comprises the examples of homophenogamic marriages between persons with a rare hereditary dominant character, hand-palm and foot-sole hyperkeratosis, leading to the increase of inbreeding intensity in the population. On the contrary, homophenogamic marriages between persons with vitiligo, a considerably more widespread character, lead to the decrease of the degree of inbreeding in a population, since they take place between partners coming from different districts of the region.

Female↗
PubMed1975

[Interaction of homoeotic mutations Antennapedia and Polycomb in Drosophila melanogaster].

Pairwise interaction of three alleles of Antennapedia (Antp49, Antp 50 and APX) with two alleles of Polycomb (Pc1 and Pc2) considerably increased homoeotic transformation of antennae caused by Antennapedia gene (up to the formation of completely developed homoeotic legs). On the contrary, Antennapedia alleles decreased the transformation of meso- and metatoracic legs into protoracic legs, as caused by Pc alleles. The degree of changes in the expression of Antp and Pc due to intergenic interaction were, as a rule, Antennapedia specific, i.e. the differences were greater when Antp alleles were substituted in genotypes. A possible mechanism of the interaction observed is discussed.

Animals↗
PubMed1975

[Interaction of homoeotic mutations Antennapedia and aristapedia in Drosophila melanogaster].

Expression of a number of mutant alleles of Antennapedia and aristapedia loci in pairwise combination of the type Antp ssa/+ssa was compared with their expression in initial Antp and ssa stocks. Marked mutual enhancement of homoeotic action of the genes studied was observed up to the formation of well developed antennal legs consisting of coxae, trochanter, femurs, tibiae and five-segment tarsi in some flies (especially, Antp49 ssa/+ssa). Antennapedia-specificity (rather than aristapedia) of the interaction was found. Cellular basis of action and interaction of homoeotic genes is discussed.

Alleles↗
PubMed1974

[Manifestations of the eyeless-dominant gene in Drosophila melanogaster].

A phenogenetic study was carried out of the eyD-mutation in Drosophila melanogaster which reduces the eye and quantitatively affects different regions of the head capsule originating from the eye imaginal disc. It was shown that the change in eye size is connected causally with changes in certain regions of head capsule: increase in chaetae number or duplication in different regions of the head capsule may be due to the degeneration of presumptive ommatidia. It is supposed that the variable response of chaetae number to the decrease in eye size depends on the origin of chaetae and their topography at different stages of the disc development.

Animals↗
PubMed1974

[Interaction of the homoeotic mutations aristapedia and polycomb during ontogenesis of Drosophila melanogaster].

The manifestation of 5 alleles of aristapedia and 2 alleles of Polycomb was studied in initial stocks and in flies of Pc ssa/+ssa genotype. Mutual enhancement of homoeotic effects of ssa and Pc genes was observed. Differences in intergenic interaction were aristapedia, rather than Polycomb specific. Possible role of homoeotic mutations as mutations of regulatory genes and the bearing of the data on their interaction on the results of clonal analysis of homoeosis are discussed.

Alleles↗