Captura y procesamiento de imágenes para el diagnóstico molecular de la Fibrosis Quística

Lorena  Diaz Mora; Mirtha Irizar Mesa

Authors

Lorena Diaz Mora Technological University of Havana "José Antonio Echeverría"
Mirtha Irizar Mesa Universidad Tecnológica de la Habana "José Antonio Echeverría"

Keywords:

Fibrosis Quística, microarreglos, procesamiento de imágenes.

Abstract

Cystic Fibrosis is a hereditary disease present in Cuba and for its confirmatory diagnosis the sweat test is performed as the gold standard, while genetic analysis is used in the prenatal and preconceptional detection of carriers in order to identify the risk of having a child with this disease. Taking this last element into account, genetic analysis should be included in routine diagnosis. The Immunoassay Center has developed a DNA microarray reader in order to improve neonatal screening for the disease; however, it lacks an application to accurately validate the quality of the samples. This work presents a computational tool that allows obtaining the images from the start-up of the reader and processing them, going through the three fundamental stages in the processing of microarray images. It was validated through functional tests that guarantee its correct functioning, allowing to determine the main mutations that cause Cystic Fibrosis in each of the samples studied, with a high degree of reliability.

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