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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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[Genetic Variability and Structure of SNP Haplotypes in the DMPK Gene in Yakuts and Other Ethnic Groups of Northern Eurasia in Relation to Myotonic Dystrophy].

https://arctichealth.org/en/permalink/ahliterature265650
Source
Genetika. 2015 Jun;51(6):724-32
Publication Type
Article
Date
Jun-2015
Author
M G Swarovskaya
S K Stepanova
A V Marussin
A L Sukhomyasova
N R Maximova
V A Stepanov
Source
Genetika. 2015 Jun;51(6):724-32
Date
Jun-2015
Language
Russian
Publication Type
Article
Abstract
The genetic variability of the DMPK locus has been studied in relation to six SNP markers (rs2070736, rs572634, rs1799894, rs527221, rs915915, and rs10415988) in Yakuts with myotonic dystrophy (MD) in the Yakut population and in populations of northern Eurasia. Significant differences were observed in the allele frequencies between patients and a population sample of Yakuts for three SNP loci (rs915915, rs1799894, and rs10415988) associated with a high chance of disease manifestation. The odds ratios (OR) of MD development in representatives of the Yakut population for these three loci were 2.59 (95% CI, p = 0,004), 4.99 (95% CI, p = 0.000), and 3.15 (95% CI, p = 0.01), respectively. Haplotype TTTCTC, which is associated with MD, and haplotype GTCCTT, which was observed only in Yakut MD patients (never in MD patients of non-Yakut origin), were revealed. A low level of variability in the locus of DMRK gene in Yakuts (H(e) = 0.283) compared with other examined populations was noted. An analysis of pairwise genetic relationships between populations revealed their significant differentiation for all the examined loci. In addition, a low level of differentiation in territorial groups of Yakut populations (F(ST) = 0.79%), which was related to the high subdivision of the northern Eurasian population (F(ST) = 11.83%), was observed.
PubMed ID
26310035 View in PubMed
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