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Analysis of the α-synuclein gene dosage variation associated with autosomal dominant form of Parkinson’s disease

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Abstract

Fifty-two patients that had Parkinson’s disease with autosomal dominant type of inheritance were analyzed for the presence of duplications and triplications in exons 4–6 of α-synuclein gene using real-time PCR with TaqMan probes. No mutations involving the examined exons dosage were revealed in α-synuclein gene. Thus, mutations modifying copy number of α-synuclein gene do not significantly affect the pathogenesis of the autosomal dominant form of Parkinson’s disease in patients from Russia.

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Authors and Affiliations

  1. Institute of Molecular Genetics, Russian Academy of Sciences, Moscow, 123182, Russia

    E. V. Semenova, M. I. Shadrina, P. A. Slominsky & S. A. Limborska

  2. Neurological Research Center, Russian Academy of Medical Sciences, Moscow, 123367, Russia

    S. N. Illarioshkin, G. Kh. Bagyeva, A. V. Karabanov & I. A. Ivanova-Smolenskaia

Authors
  1. E. V. Semenova
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  2. M. I. Shadrina
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  3. P. A. Slominsky
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  4. S. N. Illarioshkin
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  5. G. Kh. Bagyeva
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  6. A. V. Karabanov
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  7. I. A. Ivanova-Smolenskaia
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  8. S. A. Limborska
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Correspondence to E. V. Semenova.

Additional information

Original Russian Text © E.V. Semenova, M.I. Shadrina, P.A. Slominsky, S.N. Illarioshkin, G.Kh. Bagyeva, A.V. Karabanov, I.A. Ivanova-Smolenskaia, S.A. Limborska, 2009, published in Genetika, 2009, Vol. 45, No. 4, pp. 573–576.

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Semenova, E.V., Shadrina, M.I., Slominsky, P.A. et al. Analysis of the α-synuclein gene dosage variation associated with autosomal dominant form of Parkinson’s disease. Russ J Genet 45, 504–506 (2009). https://doi.org/10.1134/S1022795409040176

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  • DOI: https://doi.org/10.1134/S1022795409040176

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