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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.
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PubMed ID
30874528 View in PubMed
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[Comparison CCR5de132 mutation in the CCR5 gene frequencies in Russians, Tuvinians, and in different groups of HIV-infected individuals].

https://arctichealth.org/en/permalink/ahliterature171493
Source
Genetika. 2005 Nov;41(11):1559-62
Publication Type
Article
Date
Nov-2005
Author
S A Apriatin
E R Rakhmanaliev
I A Nikolaeva
S V Ruban
F G Vazykhova
E A Klimov
G E Sulimova
I G Sidorovich
Source
Genetika. 2005 Nov;41(11):1559-62
Date
Nov-2005
Language
Russian
Publication Type
Article
Keywords
Alleles
Asian Continental Ancestry Group
European Continental Ancestry Group
Female
Gene Frequency
HIV Seropositivity - genetics
HIV-1
Humans
Male
Receptors, CCR5 - genetics
Russia
Sequence Deletion
Abstract
The 32-bp deletion (CCR5del32 mutation) in the CCR5 (chemokine (C-C motif) receptor 5) gene, encoding CCR5 chemokine receptor, is one of the factors determining natural resistance to human immunodeficiency virus (HIV-1) infection. In the present study, the samples of Russians (n = 107), Tuvinians (n = 50), and HIV-infected individuals were examined for the presence of CCR5del32 mutation in the CCR5 gene. The CCR5del32 allele frequency in Russians and Tuvinians constituted 7.84 and 2%, respectively. Among HIV-1 infected individuals, two groups, of macrophage-tropic HIV-1 strain- and T-cell-tropic HIV-1 strain-infected were distinguished. The CCR5del32 allele frequency in the first group (6.45%) was lower than in the second one (8.73%). Statistical treatment of the HIV-1 infected individuals typing data showed that the difference in the CCR5del32 allele frequencies between the groups of sexually (macrophage-tropic) and parenterally (T-cell-tropic) infected individuals observed was within the limit of random deviation.
PubMed ID
16358723 View in PubMed
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[Polymorphism of CTG-repeats in the DMPK gene in populations of Yakutia and central Asia].

https://arctichealth.org/en/permalink/ahliterature174162
Source
Mol Biol (Mosk). 2005 May-Jun;39(3):385-93
Publication Type
Article
Author
S A Fedorova
R I Khusainova
I A Kutuev
A L Sukhomiatova
I A Nikolaeva
S S Kulichkin
V L Akhmetova
A Z Salimova
G S Sviatova
G M Berezina
F A Platonov
E K Khusnutdinova
Source
Mol Biol (Mosk). 2005 May-Jun;39(3):385-93
Language
Russian
Publication Type
Article
Keywords
Alleles
Asia, Central
Asian Continental Ancestry Group
Female
Gene Frequency
Humans
Male
Myotonic Dystrophy - epidemiology - genetics
Phylogeny
Polymorphism, Genetic
Prevalence
Protein-Serine-Threonine Kinases - genetics
Siberia
Trinucleotide Repeats - genetics
Abstract
Allele frequency distribution of CTG-repeat in the 3'-flanking region of DMPK gene was analyzed in populations of Yakutia (three ethnogeographical groups of Yakuts, Evenks, Evens, Yukaghirs, Dolgans) and Central Asia (Kazakhs, Uzbeks, Uighurs). Frequencies of CTG alleles were found to be significantly different in two regions. Allele frequency distribution in populations of Yakutia was similar to Asian populations, whereas Central Asian populations showed similarity to European populations. The features of allele spectrum in Yakut populations were discussed in terms of high prevalence of myotonic dystrophy in Yakuts. Our result supports the hypothesis of founder effect in spread of myotonic dystrophy in Yakuts. The phylogenetic relationships between the investigated populations based on polymorphism of CTG-locus of the DMPK gene have been analyzed as well.
PubMed ID
15981568 View in PubMed
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