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

Methods Mol Biol. 2019:1922:453-492. doi: 10.1007/978-1-4939-9012-2_37.


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.

Keywords: Amelogenesis imperfecta; Cell culture; Dentin inherited disorders; Epigenetics; Next-generation sequencing; Tooth agenesis.

MeSH terms

  • Amelogenesis Imperfecta / genetics
  • Cell Culture Techniques / methods
  • DNA / genetics
  • DNA / isolation & purification
  • Epigenesis, Genetic*
  • High-Throughput Nucleotide Sequencing / methods*
  • Humans
  • Phenotype
  • Polymerase Chain Reaction / methods
  • Rare Diseases / genetics*
  • Tooth Abnormalities / genetics
  • Tooth Diseases / genetics*


  • DNA