BMS1062 Lecture Notes - Lecture 9: Myoglobin, Porphyrin, Hemoglobin
14 Aug 2018
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Lecture 9 : mutations in evolution, disease and fingerprinting. A mutation need not be disadvantageous, it may confer an advantage or just be silent. Describe how genes evolve and the concept of gene families. Understand in relation to human genetic disease : heterozygote advantage and diagnosis using. Explain through the use of examples, the scientific usefulness of sequence variation in the population. Advantageous mutations provide a selective advantage ie natural selection . Neutral or silent mutations (commonly in non-coding regions) are of scientific interest to trace lineages, or to trace identity eg: the hiv receptor gene that confers hiv protection found recently in humans, the ccr5 receptor allows. Ccr5 32 lowers the amount of receptors that are expressed, without any ill effect to the individual. New genes are not made in random sequences from scratch. Changes in dna sequence leads to change in amino acid sequence which lead to changes in protein.
