Optimizing Molecular Diagnostics for Huntington's Disease and Hemochromatosis
Keywords:
Molecular diagnosis, Monogenic diseases, Huntington disease, HemochromatosisAbstract
The molecular characterization of the mutations causing hereditary diseases are important tools for diagnosis, prognosis and eventually treatment. Huntington's disease is a neurodegenerative disease producing spastic uncontrolled movements and is caused by the expansion of a trinucleotide (CAG)n within the first exon of the gene HD located at 4p16. Hemocromatosis is a liver disease causing cirrosis, diabetes and heart problems, in addition one third of patients dies of hepatocarcinoma. Almost all cases of hemocromatosis are due to mutations in the gene HFE at 6p21, being C282Y and H63D the mutations most frequently detected in Europe and USA. We are establishing the molecular diagnosis of different diseases starting with Huntington disease and hemochromatosis as the begining of a service to the Peruvian comunity.
Downloads
Downloads
Published
How to Cite
Issue
Section
License
Copyright (c) 2022 Ana Hurtado Alindes, María Luisa Guevara-Fujita, Luis Acevedo, Ricardo Fujita
This work is licensed under a Creative Commons Attribution 4.0 International License.
Horizonte Médico (Lima) (Horiz. Med.) journal’s research outputs are published free of charge and are freely available to download under the open access model, aimed at disseminating works and experiences developed in biomedical and public health areas, both nationally and internationally, and promoting research in the different fields of human medicine. All manuscripts accepted and published in the journal are distributed free of charge under the terms of a Creative Commons license – Attribution 4.0 International (CC BY 4.0).
