3. Application to molecular analysis: mutation identification

Since the advent of PCR, numerous diagnostic strategies have been developed with the aim of identifying mutations at the root of hereditary pathologies. These strategies differ according to whether or not the gene has been cloned and identified, and whether or not the mutation in question is known. However, there is a common prerequisite for all strategies: no genomic exploration can be envisaged unless the disease has already been firmly diagnosed.

There are two types of genotyping methods: direct methods, which highlight the genetic lesion itself, and indirect methods, which use polymorphic markers.