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11 records – page 1 of 2.

[Analysis of mitochondrial 12S rRNA and tRNA(Ser(UCN)) genes in patients with nonsyndromic sensorineural hearing loss from various regions of Russia].

https://arctichealth.org/en/permalink/ahliterature148940
Source
Genetika. 2009 Jul;45(7):982-91
Publication Type
Article
Date
Jul-2009
Author
L U Dzhemileva
O L Posukh
A M Tazetdinov
N A Barashkov
S G Zhuravskii
S N Ponidelko
T G Markova
V N Tadinova
S A Fedorova
N R Maksimova
E K Khusnutdinova
Source
Genetika. 2009 Jul;45(7):982-91
Date
Jul-2009
Language
Russian
Publication Type
Article
Keywords
DNA, Mitochondrial - genetics
Female
Genetic Predisposition to Disease
Hearing Loss, Sensorineural - ethnology - genetics
Humans
Male
Mutation
Pedigree
Polymorphism, Genetic
RNA, Ribosomal - genetics
RNA, Transfer - genetics
Russia - epidemiology
Abstract
Mitochondrial DNA (mtDNA) mutations play an important role in etiology of hereditary hearing loss. In various regions of the world, patients suffer from nonsyndromic sensorineural hearing loss initiated by aminoglycoside antibiotics. Mutations that had been shown as pathogenetically important for hearing function disturbance were identified in mitochondrial 12S rRNA and tRNA(Ser(UCN)) genes while pathogenic role of several DNA sequences requires additional studies. This work presents the results of studying the spectrum of mutations and polymorphic variations in mtDNA genes 12S rRNA and tRNA(Ser(UGN)) in 410 patients with nonsyndromal sensoneural hearing impairment/loss from the Volga Ural region, St Petersburg, Yakutia, and Altai and in 520 individuals with normal hearing, which represent several ethnic groups (Russians, Tatars, Bashkirs, Yakuts, Altaians) residing in the Russian Federation. Pathogenetically significant mutation A1555G (12S rRNA) was found in two families (from Yakutia and St Peresburg) with hearing loss, probably caused by treatment with aminoglucosides, and in the population sample of Yakuts with a frequency of 0.83%. Further research is needed to confirm the role in hearing impairment of mutations 961insC, 961insC(n), 961delTinsC(n), T961G, T1095C (12S rRNA) and G7444A, A7445C (tRNA(Ser(UGN revealed in the patients. In addition, in the patients and the population groups, polymorphic mt DNA variants were detected, which are characteristic also of other Eurasian populations both in spectrum and frequency.
PubMed ID
19705751 View in PubMed
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[Clinical and molecular-genetic characteristics of X-linked spinal-bulbar amyotrophy (Kennedy's disease) in the Sakha Republic (Yakutia)].

https://arctichealth.org/en/permalink/ahliterature298827
Source
Zh Nevrol Psikhiatr Im S S Korsakova. 2019; 119(2):55-60
Publication Type
English Abstract
Journal Article
Author
N R Maksimova
I A Nikolaeva
S K Stepanova
M N Korotov
Author Affiliation
'Ammosov North-Eastern Federal University', Yakutsk, Russia.
Source
Zh Nevrol Psikhiatr Im S S Korsakova. 2019; 119(2):55-60
Language
Russian
Publication Type
English Abstract
Journal Article
Abstract
To perform a clinical-genealogical and molecular genetic analysis of X-linked spinal-bulbar amyotrophy (Kennedy's disease) in the Sakha Republic (Yakutia).
Six patients, aged from 30 to 60 years, from 4 unrelated Yakut families registered in the Republican genetics registry of hereditary and congenital abnormalities of the Sakha Republic were studied. The average age of onset was 45.1±4.4 years. A clinical-genealogical and molecular genetic methods were used.
The prevalence of spinal-bulbar amyotrophy Kennedy in the Republic of Sakha (Yakutia) is 1.3 per 100 thousand, among Yakut men is 2.8 per 100 thousand. Clinical manifestations of the disease in the patients included in the study were similar to those described previously in the literature. Patients underwent molecular genetic diagnosis in exon 1 of the androgen receptor (AR) gene. All of them carried the allele with more than 38 CAG repeats. There was an inverse correlation between the age at disease onset and the number of CAG-repeats. A method of DNA diagnosis of Kennedy's disease with visualization on an agarose gel has been introduced in genetic testing.
???? ????????????. ??????????? ? ???????????-???????????? ???????? ?????????-?????????? ?????????? ??????? ? ?-?????????? ????? ???????????? ? ?????????? ???? (??????) - ??(?). ???????? ? ??????. ? '??????????????? ???????????? ???????? ?????????????? ? ?????????? ????????? ?? (?)' ???????????????? 6 ??????? ?? 4 ???????? ????? ? ????????? '?????????-?????????? ?????????? ???????'. ???????? ???????-??????????????? ? ???????????-???????????? ?????? ?-?????????? ?????????-?????????? ?????????? ??????? ? ??(?). ?????????? ? ??????????. ?????????????????? ?????????-?????????? ?????????? ??????? ? ??(?) ?????????? 1,3 ?? 100 ???. ???????? ?????????, ????? ??????-?????? - 2,8 ?? 100 ???. ??? ????? ??????????? ?????????? 6 ??????? ?? 4 ????????????? ???????? ????? ? ???????? ?? 33 ?? 60 ???. ????? ??????? - 45,1±4,4 ????. ??????????? ?????????? ??????????? ?????? ? ?????????? ?????? ? ??????????. ???? ??????? ????????? ???????????-???????????? ??????????? ??????? ? 1-? ?????? ???? AR ? ???????? ?????????? ????? ?????????????????? ????????? ?????? ?????? ???? ????? 38 CAG-????????. ????????? ???????? ?????????????? ????? ????? ????????? ?????? ??????????? ? ??????????? CAG-????????. ? ???????? ??????-????????????? ???????????????? ???? ???????? ???????? ???-??????????? ??????? ??????? ? ????????????? ? ????????? ????.
PubMed ID
30874528 View in PubMed
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[Detection of novel genetic markers of susceptibility to preeclampsia based on an analysis of the regulatory genes in the placental tissue].

https://arctichealth.org/en/permalink/ahliterature277594
Source
Mol Biol (Mosk). 2016 Sep-Oct;50(5):870-879
Publication Type
Article
Author
V N Serebrova
E A Trifonova
T V Gabidulina
I Yu Bukharina
T A Agarkova
I D Evtushenko
N R Maksimova
V A Stepanov
Source
Mol Biol (Mosk). 2016 Sep-Oct;50(5):870-879
Language
Russian
Publication Type
Article
Abstract
Regulatory single nucleotide polymorphisms (rSNPs) are the least-studied group of SNP; however, they play an essential role in the development of human pathology by altering the level of candidate genes expression. In this work, we analyzed 29 rSNPs in 17 new candidate genes associated with preeclampsia (PE) according to the analysis of the transcriptome in placental tissue. Three ethnic groups have been studied (yakut, russian, and buryat). We have detected significant associations of PE with eight rSNPs in six differentially expressed genes, i.e., rs10423795 in the LHB gene; rs3771787 in the HK2 gene; rs72959687 in the INHA gene; rs12678229, rs2227262, and rs3802252 in the NDRG1 gene; rs34845949 in the SASH1 gene; and rs66707428 in the PPP1R12C gene. We used a new approach to detecting genetic markers of multifactorial diseases in the case of PE based on a combination of genomic, transcriptomic, and bioinformatic approaches. This approach proved its efficiency and may be applied to detecting new potential genetic markers in genes involved in disease pathogenesis, which reduces missing heritability in multifactorial diseases.
PubMed ID
27830690 View in PubMed
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EPIDEMIOLOGICAL FEATURES OF CHRONIC VIRUS HEPATITIS B AND C IN THE REPUBLIC SAKHA (YAKUTIA).

https://arctichealth.org/en/permalink/ahliterature270954
Source
Wiad Lek. 2015;68(4):502-7
Publication Type
Article
Date
2015
Author
V V Gerasimova
N R Maksimova
A. Levakoval
A B Zhebrun
S L Mukomolov
Source
Wiad Lek. 2015;68(4):502-7
Date
2015
Language
English
Publication Type
Article
Keywords
Adult
Aged
Aged, 80 and over
Arctic Regions - epidemiology - ethnology
Asian Continental Ancestry Group
Chronic Disease - epidemiology - ethnology
Epidemiologic Studies
Hepatitis B - epidemiology
Hepatitis C - epidemiology - ethnology
Humans
Incidence
Middle Aged
Population Groups
Prevalence
Russia - epidemiology - ethnology
Time Factors
Young Adult
Abstract
High disease burden of chronic virus hepatitis B and C of population in the Republic Sakha (Yakutia) is subject to referring it to endemic territories due to these infections. For a 15-year-old period the disease has been registered at higher rates in the Russian Federation.
PubMed ID
26887121 View in PubMed
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[Genetic demographic description of the Ust-Aldan rural population of Sakha Republic (Yakutia): ethnic, sex, and age compositions, vital statistics, and surname structure]

https://arctichealth.org/en/permalink/ahliterature30216
Source
Genetika. 2004 May;40(5):677-84
Publication Type
Article
Date
May-2004
Author
A N Kucher
N R Maksimova
A N Nogovitsina
A L Sukhomiasova
Source
Genetika. 2004 May;40(5):677-84
Date
May-2004
Language
Russian
Publication Type
Article
Keywords
Age Distribution
Demography
English Abstract
Family Characteristics
Female
Genetics, Population - statistics & numerical data
Humans
Male
Names
Rural Population - statistics & numerical data
Sex Distribution
Siberia - ethnology
Vital statistics
Abstract
Information on the sex, age, and ethnic compositions; reproductive parameters; intensity of natural selection (Crow's indices); and surname diversity of three rural populations (the Byadi, Dyupsya, and Cheriktey villages) of the Ust-Aldan ulus (district) of Sakha Republic (Yakutia) has been analyzed. The rural Yakut population of the Ust-Aldan ulus is demographically young (the mean age 25-31 years) and characterized by low outbreeding, unfavorable sex ratio in both prereproductive and reproductive ages, and high fertility (3.58-5.45 children surviving until the reproductive age per woman that has completed the reproductive period), although the actual reproductively active period is shorter than half its physiological duration. In the structure of total selection, the differential-fertility component is considerably greater than the differential-mortality component (Itot = 0.625, Im = 0.093, and If = 0.487). In the villages studied, some surnames are accumulated (45-65% of the population have five most frequent surnames), which determines the low surname diversity (alpha = 11.62-25.19) and high random isonymy (Ir = 0.0391-0.0823).
PubMed ID
15272566 View in PubMed
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[Genetic demographic description of the Ust-Aldan rural population of Sakha Republic (Yakutia): migrations and marriage structure].

https://arctichealth.org/en/permalink/ahliterature179117
Source
Genetika. 2004 May;40(5):685-90
Publication Type
Article
Date
May-2004
Author
A N Kucher
N R Maksimova
A N Nogovitsina
A L Sukhomiasova
Source
Genetika. 2004 May;40(5):685-90
Date
May-2004
Language
Russian
Publication Type
Article
Keywords
Consanguinity
Female
Genetics, Population - statistics & numerical data
Humans
Male
Marriage - statistics & numerical data
Population Dynamics
Rural Population - statistics & numerical data
Siberia
Abstract
Migrations, dynamics of the gametic structure of rural populations, and marriage structure with respect to birthplaces and inbreeding estimated from isonymy have been studied in the Ust-Aldan ulus (administrative district) of Sakha Republic (Yakutia). The villages studied (Byadi, Dyupsya, and Cheriktey) are characterized by intense migration; however, the migration radius is small (most migrations occur within the district). The rural populations studied differ in the intensities and directions of gamete flows and their dynamics. There is no substantial gamete flow into the Ust-Aldan population from outside Sakha Republic. About 50% of marriages contracted in this population are homolocal (between residents of the same district); the endogamy is low (15%). In most cases of heterolocal marriages (contracted between residents of different districts), one of the spouses is a local resident. The inbreeding estimated from isonymy is FTT = 0.002930 in Yakuts; it is mainly accounted for by the nonrandom component (FIS = 0.002232 and FST = 0.000700).
PubMed ID
15272567 View in PubMed
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[Genetic peculiarity of the yakut population from the autosomal loci data].

https://arctichealth.org/en/permalink/ahliterature185571
Source
Mol Biol (Mosk). 2003 Mar-Apr;37(2):234-9
Publication Type
Article
Author
I Iu Khitrinskaia
V A Stepanov
V P Puzyrev
M G Spiridonova
K V Puzyrev
N R Maksimova
A N Nogovitsyna
Author Affiliation
Institute of Medical Genetics, Tomsk Research Center, Russian Academy of Medical Sciences, Tomsk, 634050 Russia.
Source
Mol Biol (Mosk). 2003 Mar-Apr;37(2):234-9
Language
Russian
Publication Type
Article
Keywords
Alu Elements
Antigens, CD4 - genetics
Apolipoprotein A-I - genetics
Asian Continental Ancestry Group - genetics
Cluster analysis
Gene Frequency
Genetic Variation
Genetics, Population
Heterozygote
Humans
Mosaicism
Siberia - ethnology
Abstract
The autosomal gene pool of Yakuts was analyzed with a panel of polymorphic Alu insertions. The observed allele frequencies were typical for other Asian ethnic groups. Genetic differentiation of three Yakut populations was relatively high, 2%. East Siberian ethnic groups were shown to have a common gene pool and to experience no intense gene flow from other populations. Development of the Yakut gene pool was assumed to involve no substantial genetic effect of neighboring populations. The results fit both autochthonous and southern origin hypotheses.
PubMed ID
12723471 View in PubMed
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[Haplotype Analysis of Oculopharyngeal Muscular Dystrophy (OPMD) Locus in Yakutia].

https://arctichealth.org/en/permalink/ahliterature276502
Source
Genetika. 2016 Mar;52(3):376-84
Publication Type
Article
Date
Mar-2016
Author
A V Marusin
Kh A Kurtanov
N R Maksimova
M G Svarovskaya
V A Stepanov
Source
Genetika. 2016 Mar;52(3):376-84
Date
Mar-2016
Language
Russian
Publication Type
Article
Keywords
Alleles
Founder Effect
Haplotypes
Humans
Inuits - genetics
Poly(A)-Binding Protein I - genetics
Polymorphism, Single Nucleotide
Siberia
Abstract
Oculopharyngeal muscular dystrophy (OPMD) is a hereditary neuromuscular disease with autosomal dominant and rarely with autosomal recessive inheritance types. This study included 50 patients with a clinical diagnosis of OPMD, 23 asymptomatic carriers of the mutation from 45 unrelated families, and 56 healthy relatives, as well as population samples of four ethnic groups of Yakutia: Yakuts, Evens, Evenks, Yukaghirs. It was found that the cause of OPMD development in all investigated families is the same increase in.GCN repeats to 14 copies in the PABPN1 gene. The molecular structure ofthe (GCN)14 mutant allele is (GCG)10(GCA)3GCG. The genetic variability of ten SNPs at the OPMD locus was studied in patient families and population samples. The haplotypes of OPMD were determined by a segregation analysis technique using the EM algorithm in the groups of patients, mutation carriers, and population samples. Only one haplotype of four SNPs (ATCG) linked with the (GCN)14 mutant allele was found in Yakuts and Russian patients and OPMD mutation carriers. Probably, this indicates the accumulation of mutations as a result of the founder effect.
PubMed ID
27281858 View in PubMed
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Source
Genetika. 2008 Oct;44(10):1317-24
Publication Type
Article
Date
Oct-2008
Author
V P Puzyrev
N R Maksimova
Source
Genetika. 2008 Oct;44(10):1317-24
Date
Oct-2008
Language
Russian
Publication Type
Article
Keywords
Female
Genetic Diseases, Inborn - epidemiology - ethnology - genetics
Humans
Male
Mutation
Prevalence
Siberia - epidemiology - ethnology
Abstract
Several forms of pathologies, referred to as Yakut hereditary diseases, have been distinguished on the basis of the results of genetic epidemiological studies of Mendelian diseases in the population of the Republic of Sakha (Yakutia): spinocerebellar ataxia type I, myotonic dystrophy, oculopharyngeal muscular dystrophy, hereditary enzymopenic methemoglobinemia, and 3-M syndrome. These diseases are characterized by a high prevalence among Yakuts as compared to their global incidence in the. Data on the molecular nature of mutations in genes responsible for these hereditary diseases are presented.
PubMed ID
19062529 View in PubMed
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[Population frequency and age of mutation G5741?A in gene NBAS which is a cause of SOPH syndrome in Sakha (Yakutia) Republic].

https://arctichealth.org/en/permalink/ahliterature289519
Source
Genetika. 2016 Oct; 52(10):1194-201
Publication Type
Journal Article
Date
Oct-2016
Author
N R Maksimova
A N Nogovicina
Kh A Kurtanov
E I Alekseeva
Source
Genetika. 2016 Oct; 52(10):1194-201
Date
Oct-2016
Language
Russian
Publication Type
Journal Article
Keywords
Abnormalities, Multiple - genetics
Female
Gene Frequency
Heterozygote
Humans
Male
Neoplasm Proteins - genetics
Point Mutation
Siberia - ethnology
Syndrome
Abstract
SOPH syndrome (Short stature with Optic nerve atrophy and Pelger–Huët anomaly syndrome, OMIM#614800) is an autosomal recessive hereditary disease characterized by the following main clinical symptoms: postnatal hypoplasia, proportionately short stature, facial dysmorphism, micromelia of feet and hands, limp and loose skin, optic nerve atrophy, and Pelger–Huët anomaly of neutrophils. For the first time, this disease was described in Yakuts. The molecular-genetic study showed that its cause in Yakuts is mutation G5741?A in gene NBAS. On the basis of disequilibrium analysis for linkage of ten microsatellite markers flanking the NBAS gene with the disease, the haplotype of the founder chromosome was determined. The age of the mutation in Yakutia was estimated to be about 804 ± 140 years. The frequency of heterozygous carriers of mutation G5741?A (R1914H) in gene NBAS was found, which averaged 13 per 1000 healthy Yakuts.
PubMed ID
29369590 View in PubMed
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11 records – page 1 of 2.