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Biomedical subjects

E K Ginter

Publications and source records attributed to E K Ginter.

At least 55 records · Page 3Linked to original sources
PubMed1997

[Medico-genetic study of residents of Marii El republic: burden of hereditary diseases in four regions of the republic].

A medical genetic study of Orshanskii, Morkinskii, Sovetskii, and Semurskii raions (districts) of the Marii El Republic was performed. The total number of subjects examined was 115,743. Meadow Maris and Russians accounted for the most part of the populations of the districts studied. A total of 147 families with presumably autosomal dominant (AD) pathology and 150 families with presumably autosomal recessive (AR) or X-linked pathology (270 and 169 affected persons, respectively) were revealed. Segregation analysis demonstrated a good agreement between the observed and expected segregation frequencies for both AR and AD diseases, as well as a considerable number of sporadic cases of presumably AD diseases. The incidence of hereditary diseases was estimated separately for different population groups. Significant differences in this incidence were revealed between the urban and rural, as well as between the Russian and Mari populations; the average incidence was 2.33 affected subjects per 1000 people. The incidence of AR diseases was significantly higher in Maris than in Russians (1.34 x 10(-3) and 0.82 x 10(-3), respectively). The populations studied exhibited a significant, high correlation between the incidence of AR diseases and the levels of random and local inbreeding. The incidence of X-linked recessive diseases was approximately the same as in Russian populations studied earlier. Its average value was 0.5 per 1000 men; the incidence in the Mari and Russian populations did not differ significantly. The higher AD incidence in the total population studied and the higher AR incidence in the Meadow Mari population compared to the populations studied earlier are discussed.

Consanguinity↗
PubMed1996

Linkage of polymorphic congenital cataract to the gamma-crystallin gene locus on human chromosome 2q33-35.

Cataract is one of the major causes of blindness in humans. We describe here an autosomal dominant polymorphic congenital cataract (PCC) which is characterised by wide variations in phenotype of non-nuclear lens opacities, even among affected members of the same family. PCC families included a large, unique pedigree (254 members, 103 affected individuals), and genetic linkage was conducted using a variety of polymorphic markers. Evidence for linkage was found for chromosome 2q33-35 with PCC mapping near D2S72 and TNP1. A tri-nucleotide microsatellite marker for gamma-crystallin B gene (CRYG1) was found to co-segregate with PCC and yielded a maximum lod score of 10.62 at (theta = 0). A multipoint analysis demonstrated that the most probable location of the PCC gene was within an 8 cM genetic interval containing the gamma-crystallin gene cluster. These data provide strong evidence of the existence of an autosomal dominant mutation for PCC in or near the gamma-crystallin gene cluster. This defect is characterised by complete penetrance but variable expression of the cataract phenotype. Our study also suggests that non-nuclear human cataracts might be caused by some abnormality in gamma-crystallin genes.

Cataract↗
PubMed1996

[Genetic-demographic characteristics of highland Mari].

Genetic and demographic characteristics of the population of the Gornomariiskii raion, Marii El Republic, were estimated. The length of generation was 28.16 +/- 0.45 years, the average sibship size was 2.17, Crow index was 0.687, and its components were the following: Im = 0.114 and I(f) = 0.515. the position of the population of highland Mari among other populations studied in the space of genetic and demographic characteristics is discussed.

Adolescent↗
PubMed1996

[Population genetics of spinal muscular atrophy].

A population genetic study of spinal amyotrophy (SMA) in six Russian and three Central Asian regions was carried out. In total, 29 patients with autosomal recessive (AR) infantile proximal SMA (SMA I-III) and four patients with rare SMA forms with an unspecified type of inheritance were revealed. In Russian populations, the prevalence of SMA I-III is similar (1.5-2.5/100000), it is one of the most common hereditary neurological diseases. A tendency toward nonuniform territorial SMA prevalence is observed in genetically subdivided populations. The lesser SMA I-III prevalence in Central Asian populations might be due in part to inbreeding depression. A segregation frequency of 0.21 is in accordance with AR inheritance; the proportion of sporadic cases is 3%. Clinical genealogical data support the genetic unity of forms I-III. The origin of pedigrees with SMA in distant relatives is discussed.

Asia, Central↗
PubMed1996

[Population genetic characteristics of highland and meadow Mari. Genetic markers].

ABO blood groups; serum proteins, including transferring (Tf), group-specific component (Gc), proteinase inhibitor (PI), and haptoglobin (Hp); and erythrocytic enzymes, including acid phosphatase (ACP1) and phosphoglucomutase (PGM1), were studied in two ethnic groups from the Marii EI Republic-Highland and Meadow Mari. The size of populations examined were 111 and 140 individuals, respectively. Data on frequency distribution of phenotypes and genes are reported, and the two populations are compared with respect to allelic frequency. To assess the subdivision of the population, GST was used. Its value was 0.0041.

Alleles↗
PubMed1996

[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↗
PubMed1996

[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↗
PubMed1996

[Genetico-demographic characteristics of the population from three districts of the Bryansk region].

Results of genetic demographic investigation of three nations located in west Bryanskaya oblast (Klintsovskii, Klimovskii, and Starodubskii nations) are presented. A comparison is made with respect to a number of demographic parameters of "southern" (Krasnodar) and "northern" (Kirov) Russian populations. A low level of the Crow index, which is associated with a differential mortality rate, Im = 0.07, was established in the population studied. This fact significantly distinguishes the population of Bryanskaya oblast from other studied Russian populations. With respect to sex and age structure and the Crow index, the Bryansk population is comparable to the southern Krasnodar population, while in terms of level of isolation and inbreeding, the Bryansk population is similar to the northern Kirov population. Moreover, it was found that the Chernobyl meltdown in 1986 did not lead to any change in the genetic demographic situation in the three studied nations.

Demography↗
PubMed1996

[The meadow Mari: inbreeding and endogamy].

The genetic structure of Lugovye Maris was studied on the basis of marital migration. Malecot's parameters of isolation and endogamy index were estimated in four rations of the Marii El Republic, which is populated by Maris. High values of the endogamy index (0.80 and 0.88) never observed previously in any Russian populations, were revealed in two rations. The lack of significant correlation between endogamy and local inbreeding was analyzed. A significant correlation (0.70) between endogamy and effective population size was revealed.

Consanguinity↗
PubMed1996

[Meadow Maris: genes, surnames and migrations].

The matrices of genetic distances, calculated from the frequencies of surnames and the ABO, TF, GC, PI, HP, ACP1, and PGM1 genes, were compared with one another and with the migration matrix. The correlation coefficient between the "gene" and "surname" matrices was 0.71 +/- 0.35; other correlation coefficients were non-significant.

Adult↗
PubMed1995

Complete screening of mutations in the coding sequence of the CFTR gene in a sample of CF patients from Russia: identification of three novel alleles.

To date, a large number of mutations causing the disease, cystic fibrosis, have been reported worldwide. Having analysed the coding sequence of a sample of cystic fibrosis (CF) patients from Russia, we have identified three novel CF mutations. Two of them, 175 del C in exon 1 and 624 del T in exon 5, are frameshift mutations, predicted to result in premature termination of the CFTR transcript. The third mutation is missense and occurs in exon 12 (D572N). The profile of mutations in this sample of Russian CF patients is particular, with two mutations in exon 13 (2143 del T and 2184 ins A), accounting for 12% of the non-delta F508 alleles.

Alleles↗
PubMed1995

[Population sturcture of the Gorno-Mariĭskiĭ region of the Mariĭ El Republic].

The genetic structure of the population of the Gorno-Mariiskii raion, Marii El Republic, was studied. The population consists of two major groups, highland Mari and Russians. The former constitute the majority of the rural population, and the latter, the majority of the urban one. A marked ethnicity-related marriage assortation was found. The value of random inbreeding was estimated using frequencies of surnames. It varied from 0.00015 to 0.00069 (the weighted average was 0.00026). The local inbreeding (a) for Gorno-Mariiskii raion estimated according to Malecot was 0.00029. The local inbreeding for marriages between Mari (0.0022) was five times higher than for marriages between Russians. The indices of endogamy were 0.84 in the rural population and 0.14 in the urban population. The matrix of genetic distances and its image in the form of genetic landscape suggest a regularly distorted isolation by distance and realized panmixia.

Consanguinity↗
PubMed1994

Emery-Dreifuss syndrome: genetic and clinical varieties.

Two familial and 2 sporadic cases of Emery-Dreifuss syndrome are reported. One family presented a rare autosomal dominant variant of Emery-Dreifuss muscular dystrophy, another with X-linked recessive inheritance showed unusual intrafamilial variability. One of sporadic cases closely resembled rigid spine syndrome, the other was clinically intermediate between Emery-Dreifuss muscular dystrophy and rigid spine syndrome, showing that they are not distinct disorders.

Adolescent↗
PubMed1994

[Mapping the gene for palmoplantar hyperkeratosis (thylosis) to chromosome 17 in the 17q12-q24 region].

Mapping of the genetic defect causing dominant palmoplantaris hyperkeratosis (PPHK) was continued based on the material of an extended Uzbek pedigree. No linkage between the PPHK gene and hypervariable DNA markers from 8p, 12p, 14q, and 22q were revealed. The study of PPHK gene linkage with DNA markers covering the entire length of 17th chromosome mapped the PPHK gene to 17q12-q24 and revealed close linkage with KRT10 and D17S800 loci (zero recombination frequency at a lod score > 7). The possible location of a PPHK mutation in one of the keratin genes mapped to the same region on the 17th chromosome is discussed.

Chromosome Mapping↗
PubMed1994

[Portion of certain cystic fibrosis gene mutations and linkage dysequilibrium between the CFTR-gene locus and two DNA marker loci in Russian populations].

A sample of 165 patients who were inhabitants of Russia was screened for seven CFTR gene mutations, and analysis of polymorphism frequency at two marker loci (KM19 and VNTR in intron 6 of the CFTR gene) was performed in normal and mutant chromosomes. The frequencies of mutations in 330 mutant chromosomes were distributed as follows: delta F508, 57.5%; G542X, 1.07%; and R33AW, 0.45%. Mutations G551D, R553X, R347P, and 1154insTC were not found. Alleles and haplotypes of KM19 and VNTR loci in intron 6 of the CFTR gene were characterized by a marked linkage disequilibrium with the CFTR gene. Haplotype 2-6 showed an absolute linkage disequilibrium with the delta F508 mutation.

Alleles↗