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[Analysis of mutations in ATP7B gene and experience with direct DNA-diagnosis in hepato-lenticular degeneration].

https://arctichealth.org/en/permalink/ahliterature193806
Source
Zh Nevrol Psikhiatr Im S S Korsakova. 2001;101(4):44-7
Publication Type
Article
Date
2001
Author
A V Karabanov
I V Ovchinnikov
S N Illarioshkin
V V Poleshchuk
P A Slominskii
E D Markova
O Iu Rebrova
S A Limborskaia
I A Ivanova-Smolenskaia
Source
Zh Nevrol Psikhiatr Im S S Korsakova. 2001;101(4):44-7
Date
2001
Language
Russian
Publication Type
Article
Keywords
Adenosine Triphosphatases - genetics
Catchment Area (Health)
DNA Mutational Analysis
Exons - genetics
Gene Deletion
Hepatolenticular Degeneration - epidemiology - genetics
Humans
Point Mutation - genetics
Polymerase Chain Reaction
Russia - epidemiology
Abstract
Hepatolenticular degeneration (HLD) is a severe autosomal-recessive disorder of the copper metabolism. It is characterized by excessive accumulation of copper in the brain and in viscera and is conditioned by the damage in the gene of copper ATP-ase (ATP7B). The paper presents the results of screening of ATP7B gene mutation in 42 patients with HLD from Russian population. The regions of ATP7B gene that are the most frequently exposed to the mutation have been studied (the exzones 14, 15, 16, 18). It is demonstrated that A-->C mutation in the 14-th exzone that led to the change of histidine1069 amino acid for glutamine, was found in more than 60% of patients--Slavs from the European Russia. This mutation was observed in both homo- and heterozygous states. The deletion of (CCC-->CC) nucleotide in the 15-th exzone of the gene was observed in 2 cases. The detailed analysis of the clinical-genetic correlations was performed in patients with the determined damages of ATP7B gene. In Russia the experience of the direct DNA-diagnosis of HLD is described for the first time. It is significant for early evaluation of the patients in preclinical state and for prescription of the preventive copper-eliminating therapy.
PubMed ID
11490435 View in PubMed
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[Analysis of trinucleotide repeat expansion as a new mechanism of mutation in Huntington's chorea: theoretical and applied aspects].

https://arctichealth.org/en/permalink/ahliterature213562
Source
Genetika. 1996 Jan;32(1):103-9
Publication Type
Article
Date
Jan-1996
Author
S N Illarioshkin
I A Ivanova-Smolenskaia
E D Markova
N N Nikol'skaia
T Z Chabrashvili
N G Insarova
Source
Genetika. 1996 Jan;32(1):103-9
Date
Jan-1996
Language
Russian
Publication Type
Article
Keywords
Age of Onset
Alleles
Ethnic Groups
Female
Humans
Huntington Disease - diagnosis - genetics
Male
Mutation
Oligonucleotides
Prognosis
Risk factors
Russia
Trinucleotide Repeats
Abstract
The Huntington's chorea mutation consists of expansion of trinucleotide CAG repeats in the recently discovered gene IT-15. In this work, for the first time in a population of Russian patients, correlations between the number of copies of CAG repeats and various clinical characteristics of the disease are investigated. It is established that the degree of triplet expansion determines the age of onset of the disease and the rate of progression of the neurological and mental symptoms of Huntington's chorea, and it is also shown that the genetic instability of the mutant allele is considerably higher upon transmission of the disease gene along the paternal line. We obtained direct confirmation of the possibility of genetic instability of a normal allele inherited paternally. In this work, the first successful direct (including preclinical) DNA diagnosis in Russia of Huntington's chorea was obtained.
PubMed ID
8647411 View in PubMed
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[A PARK8 form of Parkinson's disease: a mutational analysis of the LRRK2 gene in Russian population].

https://arctichealth.org/en/permalink/ahliterature157964
Source
Zh Nevrol Psikhiatr Im S S Korsakova. 2007;107(3):46-50
Publication Type
Article
Date
2007
Author
M I Shadrina
S N Illarioshkin
G Kh Bagyeva
E V Bespalova
T B Zagorodskaia
P A Slominskii
E D Markova
S A Kliushnikov
S A Limborskaia
I A Ivanova-Smolenskaia
Source
Zh Nevrol Psikhiatr Im S S Korsakova. 2007;107(3):46-50
Date
2007
Language
Russian
Publication Type
Article
Keywords
Adult
Aged
Aged, 80 and over
DNA - genetics
Female
Genetic Predisposition to Disease
Haplotypes
Humans
Male
Middle Aged
Mutation
Parkinson Disease - epidemiology - genetics
Polymerase Chain Reaction
Population Surveillance
Prevalence
Protein-Serine-Threonine Kinases - genetics
Russia - epidemiology
Abstract
A recently described form of Parkinson's disease - PARK8 - is caused by mutations in the novel LRRK2 gene on chromosome 12q12. The most common mutation in this gene is the substitution G2019S and we studied it for the first time in a large group of Russian Slavonic patients (311 patients) with Parkinson's disease including 295 sporadic and 16 familial cases. The mutation LRRK2-G2019S was identified in 1% of patients examined (3 cases) and was not found in a group of population control. The clinical picture of all patients with the LRRK2-G2019S mutation was typical for levodopa-responsive parkinsonism and age of disease onset varied widely (from 39 to 71 years). Two different PARK8-linked haplotypes were found in carriers of the mutation that suggested the independent origin of the G2019S mutation on different chromosomes. The identification of mutations in the LRRK2 gene in patients with "ordinary" sporadic Parkinson's disease has serious implications for medical genetic counseling and prognosis in respective families.
PubMed ID
18379513 View in PubMed
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[Clinical and genetic analysis of juvenile parkinsonism in Russia].

https://arctichealth.org/en/permalink/ahliterature177325
Source
Zh Nevrol Psikhiatr Im S S Korsakova. 2004;104(8):66-72
Publication Type
Article
Date
2004
Author
T B Zagorovskaia
S N Illarioshkin
P A Slominskii
I A Ivanova-Smolenskaia
E D Markova
S A Limborskaia
O S Levin
O V Miloserdova
T N Proskokova
B Kh Bagyeva
A. Brice
Source
Zh Nevrol Psikhiatr Im S S Korsakova. 2004;104(8):66-72
Date
2004
Language
Russian
Publication Type
Article
Keywords
Adolescent
Adult
Age Factors
Child
Exons
Gene Deletion
Genetic Counseling
Genetic Testing
Humans
Middle Aged
Parkinsonian Disorders - diagnosis - genetics
Pedigree
Phenotype
Point Mutation - genetics
Polymorphism, Genetic
Russia
Ubiquitin-Protein Ligases
Abstract
Clinical and genetic analysis of juvenile parkinsonism was performed in 26 sibs from 20 families. Heterogeneity of the disorder was observed. Mutations in the parkin gene (locus PARK2, chromosome 6q25.2-27), with the prevalence of deletions over point mutations, have been identified in 41%. The comparative clinical analyses of patients examined confirmed the phenotypical polymorphism of "parkinopathy". We also showed the absence of asymmetric manifestation--an important and underestimated so far sign of the disease. The results of the study may be considered as a valuable clue to the clinical diagnosis of parkin-related juvenile parkinsonism in Russian population and implemented for mutation screening and medico-genetic counseling of affected families.
PubMed ID
15554146 View in PubMed
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A common leucine-rich repeat kinase 2 gene mutation in familial and sporadic Parkinson's disease in Russia.

https://arctichealth.org/en/permalink/ahliterature164434
Source
Eur J Neurol. 2007 Apr;14(4):413-7
Publication Type
Article
Date
Apr-2007
Author
S N Illarioshkin
M I Shadrina
P A Slominsky
E V Bespalova
T B Zagorovskaya
G Kh Bagyeva
E D Markova
S A Limborska
I A Ivanova-Smolenskaya
Author Affiliation
Department of Neurogenetics, Institute of Neurology, Russian Academy of Medical Sciences, Moscow, Russia. s-illario@mtu-net.ru
Source
Eur J Neurol. 2007 Apr;14(4):413-7
Date
Apr-2007
Language
English
Publication Type
Article
Keywords
Adult
Age of Onset
Aged
DNA Mutational Analysis
Female
Founder Effect
Gene Frequency
Genetic Predisposition to Disease
Genotype
Heterozygote
Humans
Male
Middle Aged
Mutation
Parkinson Disease - genetics
Protein-Serine-Threonine Kinases - genetics
Reverse Transcriptase Polymerase Chain Reaction
Russia
Abstract
A PARK8 form of Parkinson's disease (PD) is caused by a novel gene, leucine-rich repeat kinase 2 (LRRK2), and a single mutation G2019S was found in a proportion of LRRK2-associated cases of diverse ethnic origins. We performed the LRRK2 G2019S mutation analysis in 304 Russian patients with PD, including 291 sporadic and 13 autosomal dominant cases. The frequency of the LRRK2 G2019S was 0.7% amongst the sporadic patients (2/291) and 7.7% amongst familial PD (1/13). The mutation was also found in three unaffected relatives and absent in 700 control chromosomes. One patient carrying the LRRK2 G2019S was found earlier to have an additional mutation, a heterozygous duplication of exon 5 of the parkin gene. All patients carrying the LRRK2 G2019S exhibited typical levodopa-responsive parkinsonism, and severe levodopa-induced dyskinesia was observed in the patient carrying the LRRK2 and parkin mutations. There was notable variability in ages of the disease onset in G2019S carriers not explained by APOE genotypes. Two subsets of G2019S-positive patients had different PARK8 haplotypes suggesting that the LRRK2 G2019S in Russian patients had arisen independently on different chromosomes. Identification of common LRRK2 mutations in some PD patients without an overt family history has notable implications for genetic counseling.
PubMed ID
17388990 View in PubMed
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[Dioxins and medical-genetic indices of health of residents of the town of Chapayevsk].

https://arctichealth.org/en/permalink/ahliterature191814
Source
Gig Sanit. 2001 Nov-Dec;(6):11-6
Publication Type
Article
Author
Iu A Revazova
V S Zhurkov
N A Zhuchenko
I A Ivanova
L D Katosova
V I Platonova
B A Revich
L P Sycheva
V V Iurchenko
Source
Gig Sanit. 2001 Nov-Dec;(6):11-6
Language
Russian
Publication Type
Article
Keywords
Adult
Chemical Industry
Chromosome Aberrations
Congenital Abnormalities - epidemiology
Cytogenetics
Dioxins - adverse effects
Environmental Pollutants - adverse effects
Female
Health Surveys
Humans
Incidence
Infant, Newborn
Male
Micronucleus Tests
Mutation
Risk factors
Russia - epidemiology
Urban Population
Abstract
The paper presents the results of an integrated medical genetic survey carried out in the town of Chapayevsk. The survey included an estimation of the incidence of congenital malformations (CMF), congenital morphogenetic options (CMGO), evaluation of the frequency of chromosomal mutations of various types and micronuclei in human somatic cells. The incidence of CMF among newborn infants corresponds to that in Russia, but such forms of CMF as congenital hydrocephalus and agenesia and disgenesis of the kidney were more common in the town. The study ascertained that the average number of CMGO per child was on the increase. Cytogenetic findings unambiguously demonstrate that there was a spatial gradient within the town (from the plant to remote districts), higher rates of chromosomal aberrations. Further studies of the effects of dioxins on genetic health are required to assess the actual genetic risk due to its human contact.
PubMed ID
11810895 View in PubMed
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[Findings in immediate and early postpartum hemorrhage]

https://arctichealth.org/en/permalink/ahliterature66815
Source
Pediatr Akus Ginekol. 1968;3:56
Publication Type
Article
Date
1968
Author
K I Viankin
I A Ivanova
Source
Pediatr Akus Ginekol. 1968;3:56
Date
1968
Language
Ukrainian
Publication Type
Article
Keywords
Adult
Female
Humans
Postpartum Hemorrhage - etiology
Pregnancy
PubMed ID
5305020 View in PubMed
Less detail

[Genetic study of idiopathic torsion dystonia in Russia].

https://arctichealth.org/en/permalink/ahliterature212499
Source
Genetika. 1996 Mar;32(3):415-9
Publication Type
Article
Date
Mar-1996
Author
E L Dadali
E D Markova
A N Petrin
I A Ivanova-Smolenskaia
E G Okuneva
Source
Genetika. 1996 Mar;32(3):415-9
Date
Mar-1996
Language
Russian
Publication Type
Article
Keywords
Adolescent
Adult
Age of Onset
Child
Child, Preschool
Dystonia Musculorum Deformans - etiology - genetics
Genes, Dominant
Genes, Recessive
Genetic Linkage
Humans
Infant
Infant, Newborn
Middle Aged
Phenotype
Recurrence
Risk assessment
Russia
X Chromosome
Abstract
Inheritance of idiopathic torsion dystonia (ITD) was studied in 41 Russian families including 41 probands with generalized, focal, and segmental dystonia and 140 recurred cases. Affected relatives appeared in two or more generations in 31 families analyzed. It was shown that in 76% of segregated cases, ITD was inherited as an autosomal dominant trait with a penetrance of 40% and varying expression. An autosomal recessive type was observed in 24% of the cases. Approximately 10% of the cases of disease could be caused by a new mutation and 14.6% by a nongenetic phenotype similar to genetic forms in its clinical symptoms. ITD with the X-linked recessive type of inheritance did not occur in the families studied. The recurrence risk was 20% in autosomal dominant forms. The risk correlated with age the relative's: clinical symptoms developed in 98.4% of patients by the age of 30.
PubMed ID
8723633 View in PubMed
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The GTP cyclohydrolase I gene in Russian families with dopa-responsive dystonia.

https://arctichealth.org/en/permalink/ahliterature205411
Source
Arch Neurol. 1998 Jun;55(6):789-92
Publication Type
Article
Date
Jun-1998
Author
S N Illarioshkin
E D Markova
P A Slominsky
N I Miklina
S N Popova
S A Limborska
S. Tsuji
I A Ivanova-Smolenskaya
Author Affiliation
Department of Neurogenetics, Institute of Neurology, Russian Academy of Medical Sciences, Moscow.
Source
Arch Neurol. 1998 Jun;55(6):789-92
Date
Jun-1998
Language
English
Publication Type
Article
Keywords
Amino Acid Sequence
Dystonia - drug therapy - genetics
GTP Cyclohydrolase - genetics
Gene Expression
Humans
Levodopa - therapeutic use
Molecular Sequence Data
Pedigree
Point Mutation
Russia
Abstract
To search for mutations in the GTP cyclohydrolase I (GCH-I) gene in a set of Russian families with dopa-responsive dystonia (DRD).
Six large families with 54 affected family members and 2 patients with sporadic DRD were examined. Mutation screening was performed using single-strand conformation polymorphism analysis followed by direct sequencing of the presumably mutated exons, in patients whose results showed a normal pattern on single-strand conformation polymorphism analysis, the entire coding region of the GCH-I gene was sequenced.
Three new heterozygote point mutations located within exons 1, 2, and 4 of the GCH-I gene were identified in 3 families with autosomal-dominant inheritance. All these mutations are predicted to cause amino acid changes in the highly conserved regions of the gene. In patients from 3 other families and in both patients with sporadic DRD, no alterations in the translated portion of the GCH-I gene were observed.
Mutations in the coding region of the GCH-I gene account for a significant fraction (up to half) of the patients with a typical clinical picture of DRD. None of the mutations in the GCH-I gene described so far were detected more than once, which precludes the possibility of creating simple DNA testing procedures for routine clinical practice.
PubMed ID
9626769 View in PubMed
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12 records – page 1 of 2.