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E K Ginter

Publications and source records attributed to E K Ginter.

At least 37 records · Page 2Linked to original sources
PubMed2000

[Influence of population's genetic structure on the load size of monogenic hereditary diseases in Russia].

The paper presents the results of genetic and epidemiological study of populations in 5 Russian regions: the Kirov, Kostroma, and Bryansk Provinces, Krasnodar Territory, and the Republic of Mari El. The total size of the study population was over 1.5 million. Random inbreeding (Fst) in all Russian rural populations was significant and varied from 0.34 x 10(-3) to 7.6 x 10(-3). The prevalence rates for autosomal dominant (AD) disorders ranged from 0.22 to 3.93 per 1000. The load of autosomal recessive (AR) disorders varied from 0.17 to 2.01. The prevalence rates for AD and AR disorders was twice lower in the urban populations than those in the rural ones. The prevalence of X-linked recessive disorders was 0.33 per 1000 males. An analysis was made to examine the correlation between inherited diseases and Fst. The Pierson correlation coefficient was 0.81 and 0.87 for AD and AR disorders, respectively. The regression suggested that genetic differentiation of the populations with genes for hereditary disorders is partially related to gene drift. This suggestion was proved by genetic geographical mapping analysis. The similarity in the patterns of genetic distance distribution for all 3 genetic systems was revealed by the correlation coefficients between the maps for neutral genetic markers and the genes of AD and AR disorders which were equal to 0.67 and 0.65. There was the highest correlation coefficient between the maps of genetic distances for the genes of AD and AR disorders (Rs = 0.88).

Consanguinity↗
PubMed2000

[Genogeographic analysis of a subdivided population. II. Geography of random inbreeding (from frequency of surnames in Adygs)].

An important characteristic of the genetic structure of populations, random inbreeding (interpopulation variation), was evaluated on the basis of quasi-genetic markers (surnames). The following methodological issues are considered: estimation of random inbreeding using the coefficient of isonymy fr in a subdivided population; a comparison of inbreeding levels calculated on the basis of surname frequencies using fr and Wright's FST; a comparison of inbreeding estimates obtained on the basis of surnames and genetic markers; inbreeding variation in populations of the same hierarchical rank; and planning of genetic studies of a subdivided population. The population of Adygs (an indigenous ethnic group of Northern Caucasus) was examined as a model subdivided population. The population system of Adygs is hierarchical. Parameters of random inbreeding were examined at each level of the system "ethnic group==>tribe==>geographic group of auls==>aul." Frequencies of surnames were collected subtotally. Data on frequencies of 1340 surnames in 61 auls representing all Adyg tribes were analyzed. In total, 60,000 people were examined. The inbreeding estimates obtained on the basis of Wright's FST and the coefficient of isonymy fr virtually coincided: for Adygs in general, FST x 10(2) = 2.13 and fr x 10(2) = 2.09. At the same time, the inbreeding level exhibited marked differences among tribes: in Shapsugs, these differences were an order of magnitude higher than in Kabardins (fr x 10(2) = 2.53 and 0.25, respectively). The inbreeding estimates for auls differed by two orders of magnitudes: fr x 10(2) = 0.07 and fr x 10(2) = 7.88. An analysis of ten auls yielded fully coinciding inbreeding estimates based on quasi-genetic (fr x 10(2) = 0.60) and classical (FST x 10(2) = 0.69) gene markers. Computer maps of surname distributions in Adygs (1340 maps) were constructed for the first time ever. Based on these maps, the map of random inbreeding in the Adyg population was obtained.

Consanguinity↗
PubMed1999

Total hypotrichosis: genetic form of alopecia not linked to hairless gene.

We describe a hereditary form of alopecia in an aboriginal Finno-Ugric population. Linkage and mutation analyses of 21 families showed that the disorder was not linked to the hairless gene on chromosome 8. This implies that an isolated hairless defect caused by a single gene is a genetically heterogeneous disorder in human populations.

Adolescent↗
PubMed1999

[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↗
PubMed1999

["Synthetic" maps of the Mari gene pool (from immunobiochemical polymorphism data)].

Models of geographic distribution of 33 alleles of 10 loci (AB0, TF, GC, PI, HP, AHS, F13B, ACP1, PGM1, GLO1) in the indigenous population of five raions (districts) of Marii El Republic were analyzed by cartographic statistical methods. Based on 33 maps for individual alleles, synthetic maps were constructed; they reflected the general characteristics of the spatial variability of the Mari gene pool. A map of reliability of the synthetic maps was also obtained. This study was the first to use estimates of the reliability of the gene-geographic prognosis for constructing and interpreting the maps of principal components. Synthetic maps of principal components reveal the geography of the main factors that determine the genetic diversity of the Maris. In the map of the first principal component (accounting for 25.5% of the total variation of the Mari gene pool), isolines clearly ran in the latitudinal direction; i.e., the variability exhibited a north-south gradient. The direction of changes reflects the characteristic features of the microevolution of the Mari gene pool, because it differs from the direction of the principal components of in the total Ural gene pool. The second principal component (24.3% of variation) also exhibited a latitudinal gradient in the western part of Marii El. In the eastern part of the republic, isolines drastically change their direction and display a marked west-east gradient. This longitudinal orientation of principal components is characteristic of the Maris in the synthetic maps of the Ural region. Contributions of individual genes in the variation of principal components were analyzed. In proceeding from the geographic space to the space of principal components, it was found that Highland Maris are separated from Meadow Maris not only geographically, but also genetically.

Gene Pool↗
PubMed1999

[Burden of hereditary diseases in residents of the Mari El Republic].

A summary of the medical genetic studies of the Marii El population is presented. A total of 276,900 people, 110,894 and 166,006 urban and rural inhabitants, respectively, were examined. Regarding the ethnic composition, the studied population was mostly Mari (61.96%) and Russian (32.04%). Medical genetic examination revealed 480 subjects from 260 families with autosomal dominant (AD) diseases, 234 subjects from 184 families with autosomal recessive (AR) diseases, and 49 subjects from 41 families with x-linked diseases. Segregation analysis revealed a good agreement between the expected and observed segregation frequencies for families with AR and AD diseases and allowed the frequency of hereditary diseases in the urban and rural, as well as the Russian and Mari, populations, to be estimated. The total frequency of AD diseases in Maris was approximately twice as high as in Russians (1.99 and 0.97%, respectively); substantial differences between district populations were found. The total frequency of AR diseases was also two times higher in Maris than in Russians (1.00 and 0.54%, respectively). The frequencies of AR and AD diseases in different districts were correlated with the levels of random and local inbreeding, population size, and the index of maximum selection.

Genes, Dominant↗
PubMed1999

[Genogeographic analysis of subdivided population. The Adyge gene pool in the Caucasian gene pool system].

A gene geographic analysis of the indigenous population of the Caucasian historical cultural province was carried out with a set of genetic markers extensively studied in the Adyges (39 alleles of 18 loci): AB0, ACP, C3, FY, GC, GLO, HP, KEL, LEW, MN, MNS, P, PGD, PGM1, RH-C, RH-D, RH-E, and TF. Genetic information on 160 Caucasian populations was used (on average, 65 populations per locus). A synthetic map of the first principal component clearly showed a division into two gene geographic provinces: Northern Caucasus and Transcaucasia. The component significantly differed across the Greater Caucasian Ridge. One of the major regions of extreme values corresponded to the Adyge region. A map of the second component revealed two poles, Northwestern (the Adyges) and Caspian, in gene pool variation of the Caucasian population. The analysis of the maps and the space of principal components showed that the Adyge population is an important component of the Caucasian gene pool. A map of genetic distance from all Caucasian populations to the Adyges showed that the north Caucasian populations (excluding the Ossetes) are the most genetically similar to the Adyges, while Georgians from the Kolkhida Valley and Azerbaijanians from the lowlands near the Caspian Sea and highland steppes are the most genetically remote from the Adyges. The genetic diversity (GST x 10(2)) of the entire Caucasian gene pool was studied. The average diversity of subpopulation within a Caucasian ethnos was GS-E = 0.81, the diversity of ethnoses within a linguistic family was GE-L = 0.83, and the diversity of linguistic families was GL-T = 0.58. The race classification of the Caucasian populations (GS-E = 0.81, GS-R = 0.80, GR-T = 0.76) proved to be more genetically informative than the linguistic one. The major parameters of the Adyges (total diversity HT = 0.364, heterozygosity HS = 0.361, and subpopulation diversity within the ethnos GS-E = 0.69) were similar to those averaged over the entire Caucasian population. A comparison with the same set of genetic markers showed that the interethnic diversity in the Caucasian region was lower than in the other north Eurasian regions (GS-E was 1.24 in the European region, 1.42 in the Ural region, 1.27 in Middle Asia, and 3.85 in Siberia).

Gene Pool↗
PubMed1999

[Epidemiology of hereditary diseases in Russian population].

The results of genetic epidemiological investigations performed in different regions of Russia are presented. The size of the population surveyed is over 1.5 million persons. The prevalence rates of autosomal dominant, autosomal recessive, and X-linked recessive disorders in Russia were first assessed. It has been shown that there is a clear genetic differentiation in the prevalence rates of autosomal recessive disorders for some of the populations studied. A correlation between random inbreeding and the prevalence of recessive and dominant disorders is not only significant, but very high and the differences in random inbreeding values are a main reason of this genetic differentiation in Russia's populations. A wide spectrum of hereditary diseases is found. This includes 115 autosomal dominant, 125 autosomal recessive, and above 30 X-linked recessive hereditary disorders. Only a small part of this spectrum occurs at a rate of 1:50,000 or greater; however, it is these disorders that determine a considerable proportion (more than 50%) of all forms of hereditary disorders. A small share of the hereditary diseases revealed shows a local accumulation, which can be also explained by a gene drift. The influence of the revealed regularities in the distribution of hereditary disorders in the populations of Russia on the organization of genetic service in the country is considered.

Genetic Diseases, Inborn↗
PubMed1998

[Genogenography of the aboriginal population of Marii El (from data on immunobiochemical polymorphism)].

The geographic distribution of the frequencies of genes related to the immunological and biochemical polymorphism was studied in the Maris, who are the indigenous population of the Marii El Republic. Data on the frequencies of 33 alleles of 10 loci (ABO, TF, GC, PI, HP, AHS, F13B, ACP1, PGM1, and GLO1) in five raions (districts) of Marii El were obtained. Computer interpolation maps were constructed for all alleles. The maps allows to predict the distribution of the alleles throughout Marii El. A map of the reliability of the cartographic prediction was drawn. For the first time, the reliability of predicted gene frequencies were taken into account in constructing and interpreting the maps of gene frequencies. For the entire set of the studied genes, parameters of heterozygosity (HS) and gene diversity (GST) were estimated. Cartographic correlation analysis was performed to reveal the relationship between gene frequencies and geographic coordinates. It was found that 42% of the studied genes predominantly correlated with latitude and 9% with longitude. It was assumed that the genetic structure of Mari populations had been mainly determined by latitude-related factors. A map of Nei's genetic distances between the overall Mari gene pool and the local populations revealed a central core, which was close to the "average Mari" gene pool, and a periphery, which was genetically distant from it. Suggestions on the microevolution of the Mari gene pool were advanced. Maps of the genes with the most characteristic genetic relief (ABO*B, ACP*A, TF*D, GC*1F, PI*M2, HP*1F, and F13B*3) are shown. These maps exhibit a high correlation with the maps of principal components.

ABO Blood-Group System↗
PubMed1998

[Meadow maris: a genetic landscape].

The distribution of the most frequent family names was analyzed in five regions of the Marii El republic, and diagrams of their genetic landscape were constructed. Based on the diagrams, conclusions were drawn regarding the genetic subdivision of the corresponding populations and the boundary between elementary populations within them.

Genetics, Population↗
PubMed1998

[Diversity of hereditary pathology in the population of Marii El Republic and its differentiation with respect to gene frequencies for hereditary diseases].

The diversity of Mendelian hereditary pathology was studied in Marii El Republic. In total, 276,900 subjects, including 171,151 Maris and 88,714 Russians, living in seven raions (districts) were studied. Fifty-five autosomal dominant disease entities were found, with more than ten diseases having a frequency of 1:50,000 people or higher. In Maris, autosomal recessive hypotrichosis was observed at a relatively high frequency (1:15,337); this disease was not revealed in the Russian population studied earlier. Conversely, no phenylketonuria (PKU) was found in Maris, while it was a relatively common autosomal recessive disease in Russians. Regarding autosomal dominant pathology, 76 disease entities were revealed, with 21 diseases being observed at a frequency of at least 1:50,000. Ten X-linked diseases were found. The numbers of both autosomal recessive and autosomal dominant diseases exhibited a linear relationship with the number of subjects examined. The genetic structure of the Mari population was studied on the basis of data on the genes of recessive diseases. A matrix of Nei's genetic distances was calculated from the frequencies of 45 recessive diseases found in the seven districts studied. The average genetic distance calculated for the 45 loci of autosomal recessive diseases was 0.006175 x 10(-3). Similarly, matrix of genetic distances for five Mari populations was obtained (Medvedevskii and Zvenigovskii raions were not included) based on a total of 32 allelic frequencies for ten polymorphic immune and biochemical loci. The average genetic distance calculated from the ten polymorphic loci was 0.001930, i.e., 2.5 orders of magnitude greater than the average genetic distance for recessive diseases. The matrices of genetic distances for the five Mari populations calculated from the gene frequencies for recessive diseases and for the ten polymorphic systems were largely similar to each other. Thus, the main elements of the genetic structure of the Mari population can be estimated on the basis of gene frequencies for hereditary diseases. In this case, the characteristics of individual populations, which are more or less isolated, and of their interaction are the same as in the case of studying genetic structure with the use of polymorphic biological markers.

Female↗
PubMed1997

Mitochondrial D-loop 3' (CA)n repeat polymorphism: optimization of analysis and population data.

We report a dinucleotide repeat polymorphism in the 3' area of the mitochondrial control region. The fragments obtained using a new primer set could be reliably separated by polyacrylamide gel electrophoresis (PAGE) using nondenaturing gels. A total of five alleles [(CA)3 to (CA)7] were detected on silver-stained gels. The 90 bp product corresponds to allele 5. Samples from one African and three European populations were characterized. Significant differences could be demonstrated as to the incidence of single alleles and allele distributions in different populations. These differences were found between the three European and one African Bantu population. For specific forensic questions the mitochondrial CA repeat is well suited. Gene diversities in populations of Germany, Hungary, the Russian Federation and Cameroon were 0.36, 0.40, 0.34, 0.52, respectively.

Africa↗
PubMed1997

Genetic relationships of Asians and Northern Europeans, revealed by Y-chromosomal DNA analysis.

We have identified a new T-->C transition on the human Y chromosome. C-allele chromosomes have been found only in a subset of the populations from Asia and northern Europe and reach their highest frequencies in Yakut, Buryats, and Finns. Examination of the microsatellite haplotypes of the C-allele chromosomes suggests that the mutation occurred recently in Asia. The Y chromosome thus provides both information about population relationships in Asia and evidence for a substantial paternal genetic contribution of Asians to northern European populations such as the Finns.

Animals↗
PubMed1997

[Detection of frequent mutations of the CFTR gene in cystic fibrosis patients from Central Russia].

About 100 patients with cystic fibrosis (CF) from the European part of Russia were screened for mutations 2143delT, 2184insA, S1196X, 3732delA, and W1282X. The patients had one or two mutations (other than delta F508) in CF chromosomes. The frequency of these mutations were estimated in CF chromosomes without the delta F508 mutation. The frequencies of mutations 2143delT, 2184insA, S1196X, and W1282X were 2.9, 7.4, 2.2, and 4.8%, respectively. Linkage was found between allele 6 of the variable site (a tetranucleotide repeat in intron 6 of the gene for CF) and mutations G542X and 2143delT, as well as between allele 7 and mutations R334W, 2184insA, S1196X, and W1282X. Except for delta F508, the most common mutations were 2184insA, 2143delT, and W1282X.

Alleles↗
PubMed1997

[The marital-migrational structure of the rural and urban populations of the Marii El republic].

The marital-migrational structure of five districts of the Marii El Republic was studied on the basis of marital records. The average values of ethnic marriage assortativeness were 1.18, 1.89, 1.53, and 1.44 for the rural Mari, rural Russian, urban Mari, and urban Russian populations, respectively. The coefficient of migration into the republic for Maris was low (no more than 0.046). The local Malecot inbreeding coefficient was found to be resistant to the changes in the sample size; the correlation coefficient was 0.83. The endogamy indices for the urban and rural Mari populations varied from 0 to 0.04 and from 0.5 to 0.9, respectively. These values for the urban and rural Russian populations varied from 0.06 to 0.24 and from 0.3 to 0.9, respectively. The rate of Mari-Russian (MR) mixing was estimated.

Ethnicity↗