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.
3.1 Direct diagnosis
The difficulty of identifying a genomic lesion varies according to the nature of the gene and the type of lesion....
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Application to molecular analysis: mutation identification
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