Laboratory protocols of molecular analysis for the investigation of genetic diseases

Abstract

The application of molecular analysis in the investigation of genetic diseases has been used as routine evaluation in laboratories worldwide in the last decade. More recently, the identification of specific mutations responsible for hereditary disorders made molecular diagnosis quicker and more efficient, making this analysis an excellent tool for the diagnosis of many diseases. Several techniques can be used and, among them, the Polymerase Chain Reaction (PCR) was a mark in the “molecular era”. In the last few years, the procedures have been automated gradually, which will allow the realization of a greater number of tests in a limited amount of time. The use of knowledge in Molecular Biology Techniques has been applied in many fields of Medicine. The advances made in the last decade demonstrate a huge potential of these technologies, which can be used not only for diagnosis, but also for treatment and prevention of hereditary disorders. The perspectives for the new century are very promising and indicate the possibility of great advances in the treatment of genetic diseases. The present article describes the main techniques used in the molecular analysis for the investigation of genetic diseases.