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Mutations and DNA Technologies. DNA. Gene - a segment of DNA that codes for a protein, which in turn codes for a trait (skin tone, eye color, etc.) A gene is a piece of DNA. DNA. A mistake in DNA replication is called a mutation. Many enzymes are involved in finding and repairing mistakes.
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DNA • Gene - a segment of DNA that codes for a protein, which in turn codes for a trait (skin tone, eye color, etc.) • A gene is a piece of DNA.
DNA • A mistake in DNA replication is called a mutation. • Many enzymes are involved in finding and repairing mistakes.
Mutations • What causes mutations? • Can occur spontaneously • Can be caused by a mutagen • Mutagen: An agent, such as a chemical, ultraviolet light, or a radioactive element, that can induce a mutation in an organism.
_______________ are changes in the genetic material. REMEMBER! MUTATIONS Mutations can happen when cells make _____________ in copying their own DNA or be caused by _______________ or ___________ in the environment. mistakes radiation chemicals
Mutations • Some mutations can: • Have little to no effect • Be beneficial (produce organisms that are better suited to their environments) • Be deleterious (harmful)
KINDS OF MUTATIONS Mutations that produce changes in a single gene = ______________________ Mutations that produce changes in whole chromosomes = _______________________________ GENE MUTATIONS CHROMOSOMAL MUTATIONS
GENE MUTATIONS One or a few Mutations involving ________________ ____________ = __________________ because they occur at a single point in the DNA sequence. TYPES OF POINT MUTATIONS: _____________________ _____________________ _____________________ nucleotides Point mutation substitutions deletions insertions
SUBSTITUTION Changes one base for another A T T C G A G C T A T T C T A G C T
Substitutions • Missense mutations - code for an amino acid, but not necessarily the right amino acid • Nonsense mutations - change an amino acid codon into a stop codon, nearly always leading to a nonfunctional protein • Silent mutations- code for the same amino acid
Mutations Example: Sickle Cell Anemia
SICKLE CELL ANEMIA CAUSE: Achanged to T(glu to val) gene on chromosome #11 that codes for part of hemoglobin protein (carries oxygen in blood)
DELETION Nucleotide(s)is/are lost
Duchenne Muscular Dystrophy CAUSE: DELETION in gene that codes for a muscle protein
INSERTION Nucleotides are repeated
GENE MUTATIONS Substitutions usually affect no more than a single ____________, but deletions and insertions can have a more dramatic effect. Amino acid
FRAME SHIFT MUTATIONSChange multiple bases in the code thefatcatatetherat INSERTION thefatcatateateateatetherat DELETION thefatcatatetherat the fat cat ate the rat the fat cat ate ate ate ate the rat the fat ata tet her at
FRAME SHIFTS Frame shift mutations change every ___________ in the ___________ that follows the shift. Frame shifts can alter a protein so much it is unable to _____________ Amino acid protein function
Mutations • Types of mutations • Chromosomal Inversions: an entire section of DNA is reversed. • Ex.: hemophilia, • a bleeding disorder
DNA Repair • A complex system of enzymes, active in the G2 stage of interphase, serves as a back up to repair damaged DNA before it is dispersed into new cells during mitosis.
Human Genome Project • The Human Genome Project is a collaborative effort of scientists around the world to map the entire gene sequence of organisms. • This information will be useful in detection, prevention, and treatment of many genetic diseases.
DNA Technologies • DNA technologies allow scientists to identify, study, and modify genes. • Forensic identification is an example of the application of DNA technology.
Gene Therapy • Gene therapy is a technique for correcting defective genes responsible for disease development. • Possible cures for: • diabetes • cardiovascular disease • cystic fibrosis • Alzheimer's • Parkinson’s • Celiac Disease • and many other diseases is possible.
Genetic Engineering • The human manipulation of the genetic material of a cell. • Recombinant DNA- Genetically engineered DNA prepared by splicing genes from one species into the cells of a different species.
Genetic Engineering • Genetic engineering techniques are used in a variety of industries, in agriculture, in basic research, and in medicine. This genetically engineered cow resists infections of the udders and can help to increase dairy production.
Genetic Engineering • There is great potential for the development of useful products through genetic engineering • EX., human growth hormone, insulin, and pest- and disease-resistant fruits and vegetables Seedless watermelons are genetically engineered
Genetic Engineering • We can now grow new body parts and soon donating blood will be a thing of the past, but will we go too far? Photo of a mouse growing a "human ear"