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Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
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JoVE Journal Medicina
Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

DOI:
10.3791/57743-v

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06:33 min

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June 09, 2018

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, , , ,
1Department of Traditional Chinese Medicine, Division of Chinese Acupuncture and Traumatology,Chang Gung Memorial Hospital Linkou Medical Center and Chang Gung University College of Medicine, 2Department of Neurology,Chang Gung Memorial Hospital Linkou Medical Center and Chang Gung University College of Medicine

Capitoli

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

Summary

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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.

Tags

Genetic AnalysisHereditary TransthyretinAla97SerAmyloidosisDNA ExtractionPCRTransthyretin AmyloidosisPrognosisClinical LaboratoryBlood SamplePronaseRNaseIsopropyl AlcoholEthanolDNA PelletDNA Polymerase

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