Setting up of High Resolution Melting technique with LightCycler480, ROCHE® in haematological diagnosis and its comparative with HAIN, Lifesciences®.

Identifier:  TFG:4148

Handle: https://hdl.handle.net/20.500.11797/TFG4148

Authors:  Ventura López, Laura

Abstract:
Medical genetics studies human’s variability and heredity. Indeed, genotyping studies allow pathogenic mutations’ determination, however still exist difficulties. Research’s hypothesis pursues the optimization of genotyping studies in haematological diagnosis. For it, this study is based on the setting up of High Resolution Melting technique with LightCycler480®, previously applied with HAIN®. For validation, both systems underwent a comparative analysis for variations’ identification in Hereditary Hemochromatosis and Venous Thrombosis from DNA genomic samples. Results were homogenous, the only discrepancies found were due to the new variants detected with LightCycler480®. In conclusion, this study has allowed the genotyping studies optimization in haematological diagnosis.