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6 .2 Mutations. Pages 234-239. Mutations. can be caused by: - e nvironmental agents - errors during cell division. Radiation. Exposure to radioactive materials can cause genetic mutations. Chemicals.
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6.2 Mutations Pages 234-239
Mutations can be caused by: - environmental agents - errors during cell division
Radiation Exposure to radioactive materials can cause genetic mutations.
Chemicals • Examples: Nitrosonguanidine (NTG), Hydroxylamine, Bromodeoxyuridine (BrdU), and Ethidiumbromide
Effects • Positive, negative or neutral effect on phenotype or cell death
Point Mutations • A failure of the genetic machinery to copy the DNA perfectly.
Base-pair substitution The wrong nitrogenous base pair is included.
Insertion Extra nitrogenous bases are included during the copying of the DNA.
Deletions • One or more base pairs are left out during the copying of DNA
Chromosome mutations Involve the entire chromosome or major chunks Non-disjunction(sister chromatids fail to separate during meiosis) • Down syndrome • Turner syndrome • Patau syndrome
Chromosome mutations • Large scale deletions, insertions, duplications or inversions (flipping) of entire portions of a chromosome
Inheriting mutations • The genetic machinery is designed to find and fix copying errors. (less successful with age)
Inheriting mutations • Most of the DNA does not code for genes (so errors here are meaningless)
Inheriting mutations • Mutations in autosomes are not passed on to the next generation
Inheriting mutations • Mutations in sex cells can be passed on to the next generation
Dominant vs. Recessive • Mutations can be dominant and appear in the first generation. Ex. Huntington’s disease • Mutations can be recessive and appear only rarely when two individuals with the same mutation produce offspring. Ex. Cystic Fibrosis
Sickle cell anemia • Misshapen red blood cells can cause pain and an increased risk of infection
Sickle cell anemia • Malaria parasite enters red blood cell causing it to become sickle-shaped and leading to its destruction and removal.
Lactose Tolerance • Most babies tolerate lactose producing the enzyme needed to digest their mother’s milk • 75% of adults do not tolerate lactose • 25% of adults have a mutation in their genes that allows them to digest lactose.
Spontaneous mutations • Happen by accident
Induced mutations • Result due to exposure to a physical or chemical agent
Antibiotic Resistance • Usually antibiotics kill bacteria by weakening their cell wall. • Mutations in genes that code for the cell wall allow the bacteria to be resistant to antibiotics.
Jumping Genes • Transposons are segments of the DNA that can move from place to place. • Transposition is the act of moving a segment of DNA from one place to another. • Example: Indian corn
hemophilia • A transposon can insert itself into a gene for normal blood factor VIII, causing hemophilia in boys (X-linked gene).
Microarray Technology Microarray -small membrane or glass slide -contains samples of hundreds or even thousands of DNA fragments -arranged in a regular pattern. -Each fragment corresponds to a gene