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6.5 process and analyse information from secondary sources to describe the effect of one named and described genetic mutation on human health
process and analyse information from secondary sources to describe the effect of one named and described genetic mutation on human health
- The human inheritable disease sickle-cell anaemia is caused by a recessive base substitution mutation. Red blood cells in sufferers of this disease are sickle or crescent shaped and their haemoglobin molecules differ from normal by one amino acid in a polypeptide chain. This mutation causes red blood cells to block capillaries and cells and tissues may suffer from lack of oxygen.
- Downs syndrome and Klinefelter’s syndrome are other examples of genetic mutations that have effects on human health.