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Biomedical subjects

G I Sukolin

Publications and source records attributed to G I Sukolin.

At least 19 recordsLinked to original sources

[Genetic load of hereditary diseases in populations of the Krasnodar Krai].

Medico-genetical study of populations living in Krasnodar district was carried out. The mean value of genetic load contributed by autosomal dominant diseases composed 0.92 +/- 0.06, this value being 0.56 +/- 0.04 for autosomal recessive and 0.36 +/- 0.05 for X-linked recessive disorders per one thousand. Comparative analysis of genetical load in urban and rural populations demonstrated that they had no differences in relation to genetical load contributed by autosomal recessive and X-linked recessive disorders. At the same time, significant differences were noted between the populations concerning genetic load contributed by autosomal-dominant disorders.

Genes, Dominant↗

[Spectrum and territorial distribution of hereditary diseases in the population of the Krasnodar Krai].

The analysis of the spectrum of hereditary diseases in the population of the Krasnodar province is performed and the influence of the population dynamics factors on the spectrum is discussed. More than 130 nosological forms were discovered in the population of approx. 200,000. Among these, there are 63 autosomal dominant, 49 autosomal recessive and 17 X-linked recessive forms. Of the most frequent autosomal dominant diseases (more than 1 per 50,000) autosomal recessive and X-linked recessive disorders 13, 7 and 7 forms, respectively, were picked up. The coefficient of diversity of hereditary diseases (the number of nosological forms per 10 inhabitants) with different types of inheritance is higher in the Krasnodar population, as compared with the Kostroma population. The problem of similarity of the "nucleus" of autosomal-recessive disorders in Russian populations is discussed.

Genes, Dominant↗

[Variety of hereditary diseases in the Adygei Autonomous Region].

This report is one of the series of communications dedicated to medico-genetical description of the Adyg population in the autonomous national district. The peculiarities have been considered of the forms of hereditary diseases both in the Adyg and Russian populations neighbouring each other in the Adyg national district territory. It was inferred that the minimal distance between Adyg and Russian populations consists in the level of aggregation and variety of autosomal-recessive forms which depended on subdivision and the level of inbreeding in the populations studied.

Consanguinity↗

[Load of hereditary diseases in the populations of the Adyg autonomic district].

Comparative analysis of the loads of hereditary diseases in two ethnically different populations coexisting in the Adyg national district was performed. The modes of inheritance of diseases studied were tested by segregational analysis. The results obtained demonstrated that the load of autosomal-recessive diseases in the populations of the Adyg national district is higher than that in Russian population, while the load of autosomal-dominant diseases is similar in two populations. This difference in the level of the loads appear to be connected with genetic structure of the populations studied. Regressional analysis of relations between loads and the level of inbreeding in the Adyg population showed the explicit interrelation between the load of autosomal-dominant diseases and the Fst correlation coefficient being 0.89.

Child↗

[Early congenital lymphedema of the lower extremities combined with pachyonychia].

A four-year-old girl with early congenital lymphedema of the lower limbs in combination with the nail plate involvement (pachyonychia) is described. Such a combination is not characteristic of early lymphedema, it is usually described in late edema of the lower limbs. The described case was a sporadic one in the family. It cannot be excluded that lymphedema development was induced by impaired embryogenesis of the lymph vessels resultant from sulphanilamides intake for severe bronchitis that proband's mother had suffered during pregnancy.

Bronchitis↗

[Acro-osteolysis simulating mycetoma of the foot (pseudomycetoma)].

Idiopathic multicentric acro-osteolysis is a complex heterogenic disease that may simulate mycetoma. A ten-year-old child has developed the condition, diagnosed as mycetoma for 7 years. Medical genetic examination of the patient helped correctly diagnose the disease. Proband's younger brother suffered from the same condition. Segregation analysis has revealed a recessive sex-linked inheritance of the disease.

Child↗

[Hallopeau-Siemens' congenital epidermolysis bullosa dystrophica].

Examination of apparently intact skin of patients with generalized Hallopeau-Siemens' dystrophic epidermolysis bullosa has shown that this condition may be diagnosed histologically only in case of manifest changes. If there are no apparent changes, examination of ultrathin sections of the skin should be used. Further studies are necessary to define the diagnostic and prognostic values of the detected changes for prenatal diagnosis.

Adolescent↗

[Medico-genetic study of the residents of the Kostroma province. XI. Diversity of hereditary pathology in Kostroma].

The diversity of hereditary pathology in Kostroma was studied. An attempt was made to classify all isolated cases by genetic and clinical analysis. 57 nosological forms of autosomal dominants, 41 autosomal recessive and 14 X-linked recessive disorders were found. The analysis of marriage distances in the whole population and in the families of the probands was carried out. The spectra of hereditary pathology in Kostroma and Kostroma Province were compared. The sources of the load of hereditary pathology in Kostroma are discussed.

Bone Diseases↗