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Genetic Mutations Mutation: An unpredictable change in the genetic material of an organism Gene Mutation: A change in the structure of a DNA molecule, producing a different allele of a gene (allele = version of a gene; ex: brown hair, black hair) Chromosome Mutation: A change in the entire structure or number of whole chromosomes Causes of Mutations Mutations occur randomly with no obvious cause. Mutagens: Substances that increase the chances of mutation occurring Types of Mutations • Base Substitution – One nucleotide base takes the place of another • One amino acid is changed in the sequence Base Substitutions • Missense = if substitution changes amino acid • Nonsence = if substitution changes amino acid into a “stop” codon Types of Mutations • Base Addition – (aka Insertions) One or more extra nucleotide bases added to a sequence • Base Deletion – One or more nucleotide bases are lost from the sequence **Both additions and deletions cause Frame Shift Mutations • Incorrect sequence of amino acids • Incorrect sequence of amino acids • Frame Shift Mutations Silent mutations – Mutation that has no apparent effect on an organism OR does not change the amino acid Which types of mutations have the greatest impacts? Sickle Cell Anemia Sickle Cell Anemia • Base substitution with a significant side effect on phenotype • The affected gene codes for the oxygen carrying pigment HAEMOGLOBIN. Normal Amino Acid Sequence: Val-His-Leu-Thr-Pro-Glu-Glu-LysSickle Cell Anemia Sequence: Val-His-Leu-Thr-Pro-Val-Glu-Lys- • When haemoglobin is not combined with oxygen, the β chains are less soluble causing them to stick to each other. • This pulls RBC’s out of shape into a sickle shape. Phenylketonuria (PKU) • Base substitution • The affected gene codes for an enzyme (phenylalanine hydroxylase), which is not present in people with the mutation • This enzyme helps catalyse the conversion of phenylalanine to triosine, which is then converted to melanine Effects of PKU • Lighter skin colour • Accumulation of phenylalanine in blood and tissue fluid, causing severe brain damage • Babies are tested for PKU at birth for prevention Environmental Impacts on Phenotype • Some alleles code for traits that are highly impacted by environmental factors, such as height. • Diet • Temperatures