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Biomedical subjects

L K Mikhaĭlova

Publications and source records attributed to L K Mikhaĭlova.

At least 19 recordsLinked to original sources

[A medico-genetic description of inhabitants of two regions of the Kransnodar Krai].

The spectrum and prevalence rate of hereditary pathology in Kanevskii and Bryukhovetskii raions (districts) of Krasnodar krai (territory) were analyzed. The total size of the studied population was 145,937. The prevalence rate of monogenic hereditary pathology was estimated. This value was 1.08 +/- 0.08, 0.72 +/- 0.07, and 0.20 +/- 0.06 per 1000 people for autosomal dominant (AD), autosomal recessive (AR), and X-linked (XL) recessive diseases, respectively. Forty-two AD (158 affected persons in 82 families), 32 AR (105 affected persons in 82 families), and 6 XL disease entities (13 affected persons in 8 families) were found. A slight genetic subdivision was found in the populations of Kanevskii and Bryukhovetskii raions. However, it was not found to affect the prevalence of hereditary pathology.

Genes, Dominant↗

[Monogenic hereditary diseases in Gorno-Mariĭskiĭ district of Mariĭ El republic].

The population of Gornomariiskii raion, Marii El Republic, primarily made up of mountain Marii, was subjected to medical genetic examination. The size of the entire population is 54853. Estimates of hereditary pathology in urban and rural populations of the raion were obtained. They were 0.68 and 1.11, respectively, for autosomal dominant pathology (AD); 0.55 and 0.81 for autosomal recessive pathology (AR); and 0.45 and 0.20 for X-linked pathology. Twenty-two, 25, and six nosologic forms of autosomal dominant, autosomal recessive, and X-linked diseases were revealed, respectively. We attempted to compare the sample under consideration with previously studied Russian and Finnish populations for rare pathologic recessive genes.

Ethnicity↗

[Genetic structure and the load of hereditary diseases in five populations of Arkhangel'skaia region].

A population and medical genetic investigation was performed in a number of raions in the Arkhangel' skaya oblast. Random inbreeding coefficients were 0.000358 and 0.000361 in the Vinogradovskii and Krasnoborskii raions. Malecot's local inbreeding coefficients were 0.000565 and 0.000472, respectively. The endogamy indices were 0.37 and 0.54, respectively. In the urban population, the loads of autosomal dominant, autosomal recessive, and X-linked pathology were 1.01 and 0.98 per 1000 individuals, and 0.29 per 1000 men; in the rural population, they were 1.22, 1.55, and 1.08, respectively. In the populations studied, the hereditary pathology spectrum is described.

Consanguinity↗

[Structure and variability of hereditary disease in the Kirov Province].

The main purpose of this report is to present the nosological spectrum of hereditary diseases in 9 Districts of Kirov Province and to compare it with that studies earlier in other Russian populations. This comparison is undertaken in an attempt to define a "nucleus" of hereditary diseases in the Russian population studied. During this study 343 families with 546 affected were registered. The spectrum covered 55 different autosomal dominant, 14 autosomal recessive and 11 X-linked recessive hereditary disorders in the population under study. Some of these forms could be considered as common forms for the whole Russian population, because they were met in all Russian populations which were analysed. This conclusion is proved by the cluster analysis of genetic distances calculated on the basis of gene frequencies for autosomal recessive hereditary disorders.

Cluster Analysis↗

[Prevalence of hereditary pathologies in residents of the Kirov Province].

Medical-genetic study was carried out in the population of Kirov Province (population size about 120.000). 203 families with 334 affected with hereditary disorders were registered. The correctness of pathology classification for the inheritance type was confirmed by segregational analysis. The load of hereditary diseases in the population was: 1.25 +/- 0.06 for autosomal dominant, 1.37 +/- 0.07 for autosomal recessive and 0.22 +/- 0.06 for X-linked recessive disorders. It is suggested that variability in the values of the load of autosomal recessive disorders is determined to the large extent by genetic structure of the population.

Genes, Dominant↗

[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↗

[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↗

[Development of the joints of the upper extremities in children after intra- and periarticular fractures].

The authors studied long-term (from 2 to 9 years) results of treatment of 178 children with intra- and periarticular localization of fractures of the upper extremities. The age of the children was from 4 to 15. It has been established that the further development of the injured joint is dependent on the character of the primary displacement, exact arrangement of fragments and correct terms of immobilization being of certain significance for the consolidation and further restoration of the anatomical integrity of the bone and for the joint functioning.

Adolescent↗