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Molecular pathology 

Molecular pathology
Chapter:
Molecular pathology
Author(s):

Alan E H Emery

, Francesco Muntoni

, and Rosaline Quinlivan

DOI:
10.1093/med/9780199681488.003.0009
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date: 21 September 2019

In order to unravel the molecular pathology of a disease, where the basic biochemical defect is unknown, various approaches are possible. These have been exemplified in the case of the discovery of the DMD gene which represented a technological cornerstone for the 80s. First, the gene has to be localized to a specific chromosome, and to a particular site on the chromosome. Second, DNA markers can be selected that are located in this particular region of the chromosome. Third, it may be possible to ‘walk the genome’ from the DNA markers toward the mutant gene, to eventually include the gene itself. Fourth, having isolated the gene, this can then be used as a ‘gene-specific’ probe for direct prenatal diagnosis and carrier detection. Finally, having isolated the gene, it is possible by DNA amplification and sequencing to define the nature of the molecular defect and its product.

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