Genetic analysis of craniofacial problems – a review of the literature and some guidelines for clinical and laboratorial investigation (part 2)

Ricardo Machado CRUZ, Silviene Fabiana de OLIVEIRA

Aim: The aim of this paper is to inform the reader about genetic techniques and analysis used in clinical and laboratorial investigations for the identification and characterization of the genetic determinants for complex disorders, especially those that attain craniofacial structures. Methods: General concepts and principles of important methods of genetic analysis are given as well as some guidelines for future researchers, concerning sample gathering and pedigrees construction. These methods described here require knowledge about genetic transmission, molecular genetics and DNA markers, and involve the ability to deal with the current laboratorial techniques, including polymerase chain reactions, agarose or polyacrilamide gel and the use of DNA sequencers. Results and Conclusions: Those genetic analysis, mainly the segregation and the linkage analysis, are considered important tools in the attempt to make the relationship between some phenotypes and specific genotypes, and to search for the exact chromosomal localization of each one of these genes. The knowledge of these information can help clinical dentists to understand the important role played by genetics, leading them to get deeper into the subject.

Keywords: Pedigrees. Segregation analysis. Linkage analysis. Craniofacial disorders.

Monday, April 29, 2024 19:01