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Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
JoVE Journal
Medicine
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JoVE Journal Medicine
Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
DOI:

06:33 min

June 09, 2018

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Chapters

  • 00:04Title
  • 00:42DNA Extraction from Peripheral Blood
  • 03:28Genetic Analyses of Mutations
  • 05:38Results: Missense Mutation Visible via Sequence Chromatogram
  • 06:11Conclusion

Summary

Automatic Translation

Here, we present a protocol to confirm the presence of point mutation for the diagnosis of hereditary transthyretin amyloidosis, using Ala97Ser, the most common endemic mutation in Taiwan, as an example.

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