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Article

Diagnosis of polyglutamine spinocerebellar ataxias by polymerase chain reaction amplification and Sanger sequencing

  • Authors:
    • Changqiang Chen
    • Xuqian Fang
    • Shunchang Sun
  • View Affiliations / Copyright

    Affiliations: Department of Laboratory Medicine, Ruijin Hospital North, Shanghai Jiao Tong University School of Medicine, Shanghai 201801, P.R. China
  • Pages: 1037-1042
    |
    Published online on: May 22, 2018
       https://doi.org/10.3892/mmr.2018.9043
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Abstract

Spinocerebellar ataxia (SCA) is a group of genetic diseases of the nervous system with genetic and clinical heterogeneity. SCA is often caused by an expanded CAG repeat sequence in the encoding protein. Genetic testing is necessary to diagnose and classify the types of SCA. Next‑generation DNA sequencing usually generates a high error rate for insertion or deletion mutations, so it is unhelpful for classifying the types of SCA. In the present study, a Chinese SCA pedigree was preliminarily diagnosed with SCA1 using polymerase chain reaction (PCR) amplification. The propositus and his three younger siblings were diagnosed with SCA1 as a result of the identification of the length of the expanded CAG repeat sequence in the ATXN1 gene performed using Sanger sequencing. The current study presents a convenient and efficient method to identify causative mutations for polyglutamine SCA using PCR amplification followed by Sanger sequencing.
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Copy and paste a formatted citation
Spandidos Publications style
Chen C, Fang X and Sun S: Diagnosis of polyglutamine spinocerebellar ataxias by polymerase chain reaction amplification and Sanger sequencing. Mol Med Rep 18: 1037-1042, 2018.
APA
Chen, C., Fang, X., & Sun, S. (2018). Diagnosis of polyglutamine spinocerebellar ataxias by polymerase chain reaction amplification and Sanger sequencing. Molecular Medicine Reports, 18, 1037-1042. https://doi.org/10.3892/mmr.2018.9043
MLA
Chen, C., Fang, X., Sun, S."Diagnosis of polyglutamine spinocerebellar ataxias by polymerase chain reaction amplification and Sanger sequencing". Molecular Medicine Reports 18.1 (2018): 1037-1042.
Chicago
Chen, C., Fang, X., Sun, S."Diagnosis of polyglutamine spinocerebellar ataxias by polymerase chain reaction amplification and Sanger sequencing". Molecular Medicine Reports 18, no. 1 (2018): 1037-1042. https://doi.org/10.3892/mmr.2018.9043
Copy and paste a formatted citation
x
Spandidos Publications style
Chen C, Fang X and Sun S: Diagnosis of polyglutamine spinocerebellar ataxias by polymerase chain reaction amplification and Sanger sequencing. Mol Med Rep 18: 1037-1042, 2018.
APA
Chen, C., Fang, X., & Sun, S. (2018). Diagnosis of polyglutamine spinocerebellar ataxias by polymerase chain reaction amplification and Sanger sequencing. Molecular Medicine Reports, 18, 1037-1042. https://doi.org/10.3892/mmr.2018.9043
MLA
Chen, C., Fang, X., Sun, S."Diagnosis of polyglutamine spinocerebellar ataxias by polymerase chain reaction amplification and Sanger sequencing". Molecular Medicine Reports 18.1 (2018): 1037-1042.
Chicago
Chen, C., Fang, X., Sun, S."Diagnosis of polyglutamine spinocerebellar ataxias by polymerase chain reaction amplification and Sanger sequencing". Molecular Medicine Reports 18, no. 1 (2018): 1037-1042. https://doi.org/10.3892/mmr.2018.9043
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