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Genetic basis of mutations

Drew Ising

on 25 February 2011

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Transcript of Mutations

Mutations Chromosomal Base Base Chromosomal Basic types of base mutations... Point Frameshift Point A single base is replaced by a different base ... Only one amino acid is changed... Frameshift Addition or deletion of a nucleotide. ... All amino acids after mutation are changed... Silent Leaky Null Amino acid stays the same,
protein functions normally Amino acid is different, protein functions differently Protein does not and cannot function Amino acid is changed to STOP ARG ARG ARG GLN GLN STOP agtagatgatgatgatgctaggatgctagcta
acccgcgctcgagagagactctcgagaaa A B C D Usually have a much greater impact on the organism than a base mutation... WHY? Chromosomal Mutations Within a chrom. Aneuploidy Polyploidy D C B A C A B D D A C B Deletions Duplications Inversions Deviation from the normal
# of chromo. sets. Humans = 2 sets Change in chromo. # (not whole sets) ex: Trisomic person has 47 chromosomes, not 46 Result of NONDISJUNCTION error during meiosis A B C D C A B D NORMAL GENE & Monosomic person has 45. Human Monosomics In body (somatic) cells, monosomy is lethal.
Fetus will die before birth. ALWAYS People with Turner syndrome are missing a
2nd copy of the 23rd chromosome (XO). What would this person's gender be? Human Trisomics A person can survive to birth as a trisomic
of only 3 chromosomes. Trisomy 21 = Down's syndrome From: American Academy of Family Physicians Trisomy of 23rd chromosomes can result
in a very wide range of fertility, mental development and genders. ex: XXY, XYY, XXX What causes mutations? Mutagens Chemical Radiation Transposing Carcinogens Examples Aflatoxin B1 UV Light X-Rays Jumping genes What happens to proteins in a
BASE mutation?
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