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

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

Author information

1
Oral Histopathology Laboratory, Department of Dentistry, Health Sciences Faculty, University of Brasília (UnB), Brasília, Brazil.
2
Universidade Estadual de Ciências da Saúde de Alagoas, Maceio, Alagoas, Brazil.
3
Molecular Pharmacology Laboratory, Department of Pharmaceutics Science, Health Sciences Faculty, University of Brasília (UnB), Brasília, Brazil.
4
Department of Epigenetics, Dental Research Division, Health Science Institute, Paulista University (UNIP), São Paulo, SP, Brazil.
5
Laboratory of Medical Genetics, Faculty of Medicine, University of Brasília (UnB), Brasília, Brazil.
6
Oral Histopathology Laboratory, Department of Dentistry, Health Sciences Faculty, University of Brasília (UnB), Brasília, Brazil. acevpoppe@gmail.com.

Abstract

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

PMID:
30838595
DOI:
10.1007/978-1-4939-9012-2_37
[Indexed for MEDLINE]

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