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Gene Mutations EQ: What effects do mutations have on our body? Sickle Shaped Red Blood Cells What is a gene mutation? • Mutations are changes in genetic material (DNA) • In gene mutations, the DNA code will have a base (or bases) missing, added or exchanged in a codon. How common are mutations? • Mutations occur at a frequency of about 1 in every 1 billion base pairs • Everybody has about 6 mutations in each cell in their body! If I have that many mutations, why don’t I look WEIRD? • Mutations are not always seen. The affected gene may still function. • Mutations may - be harmful - be beneficial - have no effect on the organism. How do mutations affect a population? • Mutations are a major source of genetic variation in a population, which increases biodiversity. • Some variations may help them to survive better. How are mutations inherited? • Only mutations in gametes (egg & sperm) are passed onto offspring. • Mutations in body cells only affect the organism in which they occur and are not passed onto offspring. Types of Gene Mutations • Point mutations occur when the base sequence of a codon is changed. ex. GCA is changed to GAA • There are 3 types of point mutations: •Substitution •Deletion •Insertion Also called frameshift mutations Substitution Mutations • A single nitrogen base is substituted for another in a codon. It may or may not affect the amino acid or protein. The cat ate the rat. The cat atr the rat. The cat ate the hat. Substitution Mutations Normal DNA: CGA – TGC – ATC Alanine – Threonine - stop Mutated DNA: CGA – TGC – TTC Alanine – Threonine - Lysine Mutated DNA: CGA – TGC – ATT Alanine – Threonine - stop Insertion Mutations • Known as a FRAMESHIFT MUTATION. • A nitrogen base is inserted/added to the sequence. • It always affects the amino acids and, consequently, the protein. The cat ate the rat. The cha tat eth era t. Insertion Mutations Normal DNA: CGA – TGC – ATC Alanine – Threonine – stop Mutated DNA: CGA – TAG – CAT – C Alanine – Isoleucine – Valine Deletion Mutations • Also known as a FRAMESHIT MUTATION. • A nitrogen base is deleted/removed from the sequence. • It always affects the amino acids and, consequently, the protein. The cat ate the rat. The cat aet her at. t Deletion Mutations Normal DNA: CGA – TGC – ATC Alanine – Threonine – stop Mutated DNA: CGA – TCA- TC Alanine – Serine Gene Mutations • An example of a substitution mutation is sickle cell anemia. • Only one amino acid changes in the hemoglobin. • The hemoglobin still functions but it folds differently changing the shape of the red blood cell. Normal Red Blood Cells Sickle Shaped Red Blood Cells Gene Mutations • Huntington’s Disease is caused by an insertion mutation. • People with this disorder have involuntary movement and loss of motor control. They eventually have memory loss and dementia. The disease is terminal. Huntington Disease Located on chromosome 4 First Gene Disease Mapped Albinism mutation on chromosome 11. Disrupts the production of tyrosinase which converts tyrosine to melanin Gene Mutations • Alzheimer disease has been linked with mutations in four genes that are situated on chromosomes 1, 14, 19 and 21. • Characterized by destruction and death of nerve cells in the brain. People with this disease often exhibit memory loss, disorientation, confusion, and difficulty with reasoned thought. Disease processes cause brain cells to die, creating lesions (organ tissue damage), and reducing brain size. Mutagens • What causes mutations? natural errors or an environmental event/mutagen. • What is a mutagen? something that causes the DNA code to change (mutate) – x-ray, chemicals, UV light, radiation, etc