changes that occur to genes that result in medical conditions. Genetic Conditions: changes that occur to genes that result in medical conditions. By understanding what causes the conditions within the genetic code, scientists can begin to study cures.

Mutations Mutation: change in genetic material, structure or amount -can be harmful, helpful, or have no impact -happen because of random changes during cell production, mutagens, environmental factors (ie chemicals, radiation) Mutation: change in genetic material; structure or amount -can be harmful, helpful, or have no impact -happen because of replication errors, segregation, recombination, crossing over, spontaneous changes, mutagens/environmental factors (ie chemicals, radiation)

Chromosomal Mutation Chromosomal Mutation: a change involving either part of or the whole chromosome \

Deletion: a piece of the chromosome breaks off Duplication: part of the chromosome is doubled in a homologous chromosome Inversion: a piece of a chromosome is rotated Insertion: a piece of a chromosome breaks out and is transferred to a non-homologous chromosome Translocation: part of a chromosome transfers to a non-homologous chromosome

Chromosomal Mutation Examples -Down’s syndrome: chromosomal mutation where there is an extra #21 chromosome resulting in mental and physical exceptionalities -male infertility: Y chromosome deletions (pair 23), klinefelter syndrome (XXY – results in male with underdeveloped sexual characteristics) Klinefelter Syndrome: XXY; male with underdeveloped sexual characteristics

Gene Mutations Gene Mutation: change that affects a specific gene on a chromosome, thereby affecting the sequence of DNA

Point Mutations: substitution of one nucleotide for another

Biology X English Frameshift Mutation: a nucleotide is added or deleted, which changes the triplet codons beyond that point -usually recessive and mostly harmful

                                                                                                 Jumping Genes: genes that jump from one chromosome to another

Genetic Mutation Example Cystic Fibrosis: recessive allele on chromosome 7; glands produce mucus that clogs the lungs

Gene Mutation Example Hemophilia – a mutation on the HEMA gene of X chromosomes causes a deficiency in the blood clotting protein resulting in abnormal bleeding

Environmental Factors DNA/proteins attaching to other molecules in our bodies cause wrinkling (sun), cataracts, arthrosclerosis, kidney function decrease (alcohol), brain function decline mutagens (toxins, radiation) cause the ends of DNA molecules to shorten with each cell division, causing DNA damage to occur toxins, carcinogens, radiation, pesticides, smoking, sunlight, alcohol can change DNA sequences, the rates of cell divisions, or protein production, and thus change genetic info resulting in unhealthy situations by either over-producing or killing off cells

Cancer cells reproduce by mitosis (nuclear division) as part of the cell cycle. cancer cells are transformed because the regulatory processes are interrupted, causing cells divide uncontrollably forming tumors, which can progress from a benign to a malignant state and they interfere with normal tissue function Cancer can invade neighboring tissue or travel through lymph and blood vessels to other areas of the body

Gene Therapy -gene therapy – transferring normal genes into cells -treating disease and injury by using harmless retroviruses to insert the desired genetic information into the DNA

Genetic Engineering Genetic engineering: Transferring genes from one organism to another transgenic and genetically modified species: artificial selection of desirable traits for crops, farm animals, etc

Genetic Engineering Genetic Engineering: producing altered DNA; usually by breaking a DNA molecule and inserting new genes -Isolating Genes -Recombinant DNA

Recombinant DNA Using recombinant DNA: recombinant DNA inserted into bacterium to produce a desired trait can be used to make large amounts of rare substances (ie insulin interferon, resistant plants)

Cloning animals: Pet clones. Protecting endangered species Cloning animals: Pet clones? Protecting endangered species? Bringing back extinct species? Stem Cells:growing ANY tissue or cell type Cancer cures? HIV/AIDS cures? Growing organs for transplants? Genetic Testing Vaccinations and Pharmaceuticals Genetically Modified Organisms: Agriculture? Pharmaceuticals? Designer Babies

Ethics food = GMO, better yields, better plants suited for locations, BUT ethics of altered plants? Similar to cross breeding? populations = eliminate mutations theoretically spread of disease = vaccinations, genetic testing, cancer cures, AIDS/HIV environment: natural selection and natural crops vs breeding vs GMO’s