Molecular diagnosis [MBIMB308]

Learning outcomes

To know and understand the main methods of molecular biology used in medical diagnosis and forensic science

Content

The different types of molecular diagnosis will be approached from exemples of pathologies involving different types of mutational events. 

- Generalities, types of mutations,  nomenclature

- serach for unique point mutation (ex: hemochromatosis) -

- Gene sequencing, detection of intragenic deletion or duplication  (cystic fibrosis, breast cancer)

- Mendeliome, exome and whole genome sequencing (mental retardation)

- Trilplet expansion diseases (Huntington, fragile X, Steinert)

- Gene methylation (ex: Prader Willi - Angelman)

- Microsatellite instability (HNPCC)

- Gene expression  (ex: BCL1 in  lymphoma)

- Monoclonality (ex:  B/T récepteurs in lymphoma)

- Non invasif prenatal test

- Paternity or maternity testing

- Nuclear and  mitochondrial profile

- Pathogene detection (HPV, SARS CoV2, ...)
- ...