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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

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The content herein is provided for informational purposes and does not replace the need to apply professional clinical judgement when diagnosing or treating any medical condition. A licensed medical practitioner should be consulted for diagnosis and treatment of any and all medical conditions.

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