gene mapping

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Once a family history has clearly delineated the transmission of a trait through a family pedigree, the next step is to try to identify the locus or position of the chromosome on the mutant gene. This is termed gene mapping. It has a vital role to play in the detection of carriers and early diagnosis.

Gene mapping can also provide biochemical information about the function of individual gene products. This can be placed in the context of wider physiological function with a view to providing suitable therapy. Targeting the gene or its products are two logical steps that are becoming increasingly feasible means of treatment.

Finally, gene mapping is one means of tracking the diversity of species and their evolutionary relationships.

Gene mapping can be achieved by several means, the most important of which are:

  • family linkage studies
  • gene dosage methods
  • in situ hybridization
  • interspecific somatic cell hybridisation

Last reviewed 01/2018

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