Clinical-genetic characteristic of Charcot-Marie-Tooth disease 1А type in the Republic Sakha (Yakutia)
Abstract
This article presents clinical and genetic characteristics of Charcot-Marie-Tooth type 1A disease. By molecular genetic analysis the authors revealed 43 patients, accounting for 38% of all types of CMT. Prevalence of the disease was 4.5 per 100000 of population. Using fragment analysis method with dinucleotide STR-markers (D17S2218, D17S2223, D17S2229) they examined 98 DNA samples of patients with CMT and a sample of healthy individuals of Yakut ethnic group (n = 100). By markers D17S2218 and D17S2229 the authors revealed a high heterozygosity (to 76%), i.e. these markers are informative in the Yakut population and can be used to identify duplication.
About the Authors
P. I. Gur'eva
North-Eastern Federal University named after Ammosov M.K.
Russian Federation
Russian Federation
Gur'eva Polina Innokent'evna– «Genomic medicine» laboratory of Medical School
Kulakovskii str., 46, 677013, Yakutsk
N. R. Maksimova
North-Eastern Federal University named after Ammosov M.K.;
Yakut Scientific Centre of Siberian Branch of Russian Academy of Medical Science Russian Academy of Medical Science
Russian Federation
Russian Federation
Maksimova Nadezhda Romanovna - «Genomic medicine» laboratory of Medical School
Kulakovskii st., 46, 677013, Yakutsk;
Sergeliakhskii str., 4, 677019, Yakutsk
Ya. I. Nikolaeva
North-Eastern Federal University named after Ammosov M.K.
Russian Federation
Russian Federation
Nikolaeva Yatiana Iakovlevna–department of neurology and psychiatry of Medical School
Oiunskii st., 27, Yakutsk
I. A. Nikolaeva
Yakut Scientific Centre of Siberian Branch of Russian Academy of Medical Science;
Republican hospital №1 – National Centre of Medicine
Russian Federation
Russian Federation
Nikolaeva Irina Aver'evna
Sergeliakhskii st., 4, 677019, Yakutsk;
Medical-genetic Consultation
Sergeliakhskii st., 4, 677019, Yakutsk
E. E. Gurinova
Yakut Scientific Centre of Siberian Branch of Russian Academy of Medical Science;
Republican hospital №1 – National Centre of Medicine
Russian Federation
Russian Federation
Gurinova Elizaveta Egorovna
Sergeliakhskii st., 4, 677019, Yakutsk;
Medical-genetic Consultation
Sergeliakhskii st., 4, 677019, Yakutsk
M. N. Korotov
Yakut Scientific Centre of Siberian Branch of Russian Academy of Medical Science
Russian Federation
Russian Federation
Korotov Mefodii Nikolaevich
Sergeliakhskii st., 4, 677019, Yakutsk
S. K. Stepanova
Yakut Scientific Centre of Siberian Branch of Russian Academy of Medical Science;
Medical-genetic laboratory of Republican hospital №1 – National Centre of Medicine
Russian Federation
Russian Federation
Stepanova Svetlana Kimovna
Sergeliakhskii st., 4, 677019, Yakutsk
A. L. Sukhomiasova
Republican hospital №1 – National Centre of Medicine;
Yakut Scientific Centre of Siberian Branch of Russian Academy of Medical Science
Russian Federation
Russian Federation
Sukhomiasova Aitalina Lukichna
Sergeliakhskii st., 4, 677019, Yakutsk;
Medical-genetic Consultation
Sergeliakhskii st., 4, 677019, Yakutsk
L. T. Okoneshnikova
Republican hospital №2 –Medical Emergency Centre
Russian Federation
Russian Federation
Okoneshnikova Liudmila Timofeevna–Neurological Department
Yakutsk
References
1. Identification of mutations associated with the development of neurodegenerative diseases: the instructions for use / Osadchuk T.V. [et al.]; responsible editor T.V. Osadchuk. – Minsk: GI “Republican Scientific and Practical Centre” Mother and Child “, 2009. – P. 12.
2. Classification and diagnostic algorithms different genetic variants of hereditary motor and sensory polyneuropathy / T.B. Milovidova, O.A. Shchagina, E.L. Dadali, A.V. Poliakov // Medical Genetics. – 2011. – Vol. 4. – P. 10-16.
3. Hereditary diseases of the nervous system in the Republic of Sakha (Yakutia) / I.A.Nikolaeva [et al.] // Yakut medical journal. – 2009. – Vol.2. – P. 52-54.
4. A new form of hereditary neuropathy: CharcotMarie-Tooth disease type 2F / S.N. Illarioshkin [et al.] // The Atmosphere. Nervous Diseases. – 2005. Vol.2. – P. 42-46. 1.
5. Rudenskaia G.E. Hereditary diseases of the nervous system in the Russian and Central Asian populations: clinical and genetic-epidemiological study: summary of the diss. for the degree of PhD MD / G.E. Rudenskaia. – M, 1998. – P.43.
6. Structure and diversity of hereditary diseases in the Republic of Sakha (Yakutia) / L.A. Tarskaya [et al.] // Genetics. – 2004. – T.40, vol. 11. – P.1530-1539.
7. Ethnic specific hereditary pathology in Republic of Sakha (Yakutia) / N.R. Maksimova, A.L. Sukhomiasova, A.N. Nogovittsyna, V.P. Puzyrev // Yakut medical journal. – 2009. – Vol. 2. P. 15-19.
8. Charcot-Marie-Tooth Disease Subtypes and Genetic Testing Strategies / ASD Saporta [et al.] // Annals of Neurology. – 2011. - Vol. 69. - P.22-33.
9. DNA duplication associated with CharcotMarie-Tooth disease type 1A / JR Lupski [et al.] // Cell. – 1991. - Vol. 66. - P. 219-232.
10. Duplication analysis in Turkish CharcotMarie-Tooth type 1A patients using short tandem repeat markers / F Koç, AI Güzel, Y Sarica, H Kasap // International Journal of Neuroscience. – 2007. - Vol. 117. - P. 1611-1619.
11. New Polymorphic Short Tandem Repeats for PCR-based Charcot-Marie-Tooth Disease Type 1A Duplication Diagnosis / JL Badano, K Inoue, N Katsanis, JR Lupski // Clinical Chemistry. – 2001. - Vol. 47. - P. 838-843.
12. The peripheral myelin protein gene PMP22 is contained within the Charcot-Marie-Tooth desease type 1A duplication / V Timmerman [et al.] // Nature Genetics. – 1992. - Vol. 1. - P. 171-175.
13. http://www.molgen.ua.ac.be/CMTMutations/Home/IPN.cfm.
Review
For citations:
Gur'eva P.I., Maksimova N.R., Nikolaeva Ya.I., Nikolaeva I.A., Gurinova E.E., Korotov M.N., Stepanova S.K., Sukhomiasova A.L., Okoneshnikova L.T. Clinical-genetic characteristic of Charcot-Marie-Tooth disease 1А type in the Republic Sakha (Yakutia). Yakut Medical Journal. 2013;(3):26-29.
Views:
13
Email this article 