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An improved polymerase chain reaction method for genetic testing of spinocerebellar ataxia type 3

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Abstract

The development of a reliable PCR assay for genetic testing of spinocerebellar ataxia type 3. Touch-down PCR conditions were tested and different primer sets were evaluated with genomic DNA from blood sample of patients suffering from spinocerebellar ataxia type 3 (SCA3). An improved PCR assay was developed with a new set of primers and using the optimized touchdown PCR protocol. This new assay had been successfully employed in the screening of one identificated SCA3 family. Results from the present study document a simple and reliable PCR assay for genetic testing of SCA3. Strategies used in the present study may find applications in the optimization of PCR assay for triplet expansion with GC rich in the sequence context.

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Authors and Affiliations

  1. Department of Pharmacology and Laboratory of Aging and Nervous Diseases, Soochow University School of Medicine, Suzhou, 215123, China

    W. P. Sun, X. H. He, Zh. H. Qin & J. Wang

  2. Department of Neurology, the First Affiliated Hospital of Soochow University, Suzhou, 215006, China

    L. Q. Yu, D. P. Wang & Q. Fang

Authors
  1. W. P. Sun
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  2. X. H. He
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  3. L. Q. Yu
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  4. D. P. Wang
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  5. Zh. H. Qin
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  6. Q. Fang
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  7. J. Wang
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Correspondence to W. P. Sun.

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Sun, W.P., He, X.H., Yu, L.Q. et al. An improved polymerase chain reaction method for genetic testing of spinocerebellar ataxia type 3. Russ J Genet 47, 1260–1263 (2011). https://doi.org/10.1134/S1022795411100176

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  • DOI: https://doi.org/10.1134/S1022795411100176

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