ADVANCED MEDICAL GENETICS DIAGNOSTIC TECHNIQUES
Learning outcomes of the course unit
The student should learn how to perform in a correct way some advanced methods frequently used in Molcular Genecs Diagnosis.
Prerequisites
To attend to this course, the Students must have successfully passed the examination of the course of Biology and Genetics and of the course of Medical Genetics.
They must have attended to the activities of the course of Diagnostic Technologies in Medical Genetics as well.
Course contents summary
DHPLC: sample management; calculation of melting temperatures, problem solving. Automatic sequencing: reaction preparation; purification of reaction products, interpretation and analysis of the data and sequence alignment with a dedicated software. Use of 'on line' software for sequence analysis.
Recommended readings
Gibson G and Muse SW: A primer of genomic science 2nd es. Sinauer ed. Sunderland 2004
