Sickle Cell Anaemia
Molecular-Genetic Analysis of a Gene Defect - Sickle-Cell Anaemia as an Example
Many disorders (so-called hereditary diseases) are caused by alterations to the ge-netic material, the DNA. The extent of such changes can be quite different. While in some cases the structure of whole chromosomes is altered, in other cases a change in a single nucleic acid (point mutation) can be responsible for the development of a disorder. The aim of this practical course is to familiarise pupils with a method that allows the point mutation in the ß-chain of haemoglobin, which is responsible for sickle-cell anaemia, to be identified. For this purpose, the ß-globin gene from a control person and that of a patient with sicklecell anaemia are split with a restriction endonuclease which has its nucleotide recognition in the mutated section of the DNA. The split sample of the normal DNA which arises therefore differs from that of the mutated DNA (restriction fragment length polymorphism). The resulting DNA fragments will be separated out according to size, using gel electrophoresis, and made visible using ethyl bromide.
Duration: 1 day
Number of participants: max 24
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