Application of molecular biology techniques in the diagnosis of genetic diseases
DOI:
https://doi.org/10.22491/2357-9730.126037Keywords:
Genetic diseases, lysosomal storage diseases, molecular analysis, PCRAbstract
With the advances of the so called Genomic Medicine, the molecular analysis of genetic diseases increased the needs of a full characterization of alterations shown by an individual and is becoming essential for a differential diagnosis in several cases. The purpose of the present paper is to describe the molecular diagnostic protocols used in the Molecular Genetics Laboratory of the Medical Genetics Service of the Hospital de Clínicas of Porto Alegre. Most of these protocols are aimed at the use of updated and specialized molecular biology techniques in Brazil. The objective is not only the characterization of the affected patient’s genotype, but also the improvement of genetic counseling through the use of more sensitive and trustable techniques and strategies for the detection of carriers and for prenatal diagnosis in future pregnancies.
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