Odontogenesis pp 453-492 | Cite as

Protocols for Genetic and Epigenetic Studies of Rare Diseases Affecting Dental Tissues

  • Bruna Rabelo Amorim
  • Pollyanna Almeida Costa dos Santos
  • Caroline Lourenço de Lima
  • Denise Carleto Andia
  • Juliana Forte Mazzeu
  • Ana Carolina Acevedo
Part of the Methods in Molecular Biology book series (MIMB, volume 1922)


This chapter describes methods related to the diagnosis of genetic dental diseases. Based on the present knowledge, clinical phenotyping and next-generation sequencing techniques are discussed. Methods necessary for Sanger sequencing, multiplex ligation-dependent probe amplification, and epigenetic modification methods are detailed. In addition, protocols for cell culture establishment and characterization from patients with inherited dental anomalies are described.

Key words

Amelogenesis imperfecta Tooth agenesis Dentin inherited disorders Next-generation sequencing Epigenetics Cell culture 


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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  • Bruna Rabelo Amorim
    • 1
  • Pollyanna Almeida Costa dos Santos
    • 1
    • 5
  • Caroline Lourenço de Lima
    • 1
    • 2
  • Denise Carleto Andia
    • 3
  • Juliana Forte Mazzeu
    • 4
  • Ana Carolina Acevedo
    • 1
  1. 1.Oral Histopathology Laboratory, Department of Dentistry, Health Sciences FacultyUniversity of Brasília (UnB)BrasíliaBrazil
  2. 2.Molecular Pharmacology Laboratory, Department of Pharmaceutics Science, Health Sciences FacultyUniversity of Brasília (UnB)BrasíliaBrazil
  3. 3.Department of Epigenetics, Dental Research Division, Health Science InstitutePaulista University (UNIP)São PauloBrazil
  4. 4.Laboratory of Medical Genetics, Faculty of MedicineUniversity of Brasília (UnB)BrasíliaBrazil
  5. 5.Universidade Estadual de Ciências da Saúde de AlagoasMaceioBrazil

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