The human genome

The genome of an organism is the entire genetic material of that organism. The whole human genome has been studied, and this has great importance for medicine.

In order to exploit its secrets, it is vital that the human genome is fully understood.

It enables us to:

  • search for genes linked to different types of disease
  • understand inherited disorders and their treatment
  • trace human migration patterns from the past.

Scientists are searching for disease associated genes. One example was those that can contribute to breast cancer, which are known as BRCA1 and BRCA2. Mutations in these genes account for approximately 10% of all inherited breast cancer cases detected.

Scientists detected BRCA1 and BRCA2 genes by studying families where breast cancer was known to have been inherited between individuals. They were able to create a pedigree analysis, which is similar to a family tree diagram that showed the close relationship of those affected and unaffected within the family.

The pedigree analysis illustrates the inheritance pattern of the disease to be determined. This enabled scientists to test DNA of the affected and unaffected individuals to identify differences. It is now possible to detect the presence of the genes by having a simple blood test.