Analysis of repeated cases of prenatal DNA testing of spinocerebellar ataxia I in Yakutia
Abstract
The article presents an analysis of the repeated cases of the treatment in families burdened with spinocerebellar ataxia type 1 for the period over 10 years as a widespread rapidly progressive neurodegenerative hereditary disease, representing a specific medical and social problem in the Republic of Sakha (Yakutia). The analysis of the episodes of the repeated treatment for the prenatal DNA testing will allow to determine the competent tactics of medical care for burdened families who are at risk.
About the Authors
O. G. SidorovaRussian Federation
Sidorova Oksana Gavrilevna -research assistant, department of molecular genetics
Yakutsk, Republic Sakha (Yakutia)
S. K. Kononova
Russian Federation
Kononova Sardana Kononovna – PhD, senior researcher, department of molecular genetics
Yakutsk, Republic Sakha (Yakutia)
F. A. Platonov
Russian Federation
Platonov Fedor AlekseevichMD, Director of the Institute of Health
Yakutsk, Republic Sakha (Yakutia)
N. A. Barashkov
Russian Federation
Barashkov Nikolai Alekseevich – PhD, Head. of Lab
Yakutsk, Republic Sakha (Yakutia)
S. A. Fedorova
Russian Federation
Fedorova Sardana Arkadevna – MD, Head of the Laboratory of molecular biology
Yakutsk, Republic Sakha (Yakutia)
E. K. Khusnutdinova
Russian Federation
Khusnutdinova Elza Kamilevna, MD, Director
Ufa, Bashkortostan
V. L. Izhevskaya
Russian Federation
Izhevskaya Vera Leonidovna – MD, Deputy Director on scientific work
Moscow
References
1. Alekseev V.P. History of the formation and development of epidemiology and pathology of Viluisk encephalomyelitis / V.P. Alekseev, V.L. Osakovskii // Proceedings of the 1st international scientific conference. – Yakutsk. – 1996. – P. 30-38.
2. Zubri G.L. Hereditary cerebellar ataxia in Yakutia / G.L. Zubri, L.G. Gol’dfarb, A.P. Savinov, M.N. Korotov // The 1st All-Union Conference on Medical Genetics: theses. – M.: AMS of the USSR. – 1975. – P. 60-62.
3. Kononova S.K. To the question of prophylaxis of Spinocerebellar Ataxia type 1 in Yakutia / S.K. Kononova, S.A. Fedorova // Yakut Medical Journal. – 2003. – №1. – P. 13-15.
4. Kononova S.K. Bioethical problems of presymptomatic DNA of diagnostics of spinocerebellar ataxia type 1 in the practice of the Medical Genetic Consultation of Yakutia / S.K. Kononova, O.G. Sidorova, E.K. Khusnutdinova // Medical Genetics. – V.4. – 2005. – № 12. – P. 583-587.
5. Platonov F.A. Epidemiological state of Hereditary Spinocerebellar Ataxia in Yakutia / F.A. Platonov // Materials of the 1st international scientific conference. – Yakutsk, 1996. – P. 149-151.
6. Sukhomyasova A.L. Diversity of hereditary pathology in the Republic of Sakha (Yakutia) according to the national genetic register of hereditary and congenital pathology / A.L. Sukhomyasova //Genetic study of the population of Yakutia Ed. Puzyrev V.P., Tomsky M.I. – Yakutsk, 2014. – P.78-84.
7. Unstable Triplet Repeat and Phenotypic Variability of Spinocerebellar Ataxia Type1 / L.G. Goldfarb, O. Vasconselos, F.A. Platonov [et al.] // Ann Neurol. – 1996; №39. – P.500-506.
8. Autosomal Dominant Spinocerebellar Ataxia (SCA) in a Siberian Founder population: Assignment to the SCA 1 Locus // Experimental Neurology. – 126, 1994. – P. 130-312.
9. Effect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia 1/ Jodice C., Malaspina P. [et al.] // Am J Hum Genet. 1994; 54: – P. 959–965.
10. Genetic fitness and selection intensity in a population affected with high-incidence spinocerebellar ataxia type 1/ F.A. Platonov, K. Tyryshkin [et al.] // Neurogenetics. 2016 July; 17(3) – P.179–185.
11. Molecular and clinical correlations in spinocerebellar ataxia type 1: evidence for familiar effects on the age at onset/ Ranum L.P., Chung M.Y. [et al.] // Am J Hum Genet. 1994; 55 – P.244–252.
Review
For citations:
Sidorova O.G., Kononova S.K., Platonov F.A., Barashkov N.A., Fedorova S.A., Khusnutdinova E.K., Izhevskaya V.L. Analysis of repeated cases of prenatal DNA testing of spinocerebellar ataxia I in Yakutia. Yakut Medical Journal. 2017;(3):58-60.