Mutations and DNA repair part 1 Flashcards
sickle-cell anemia
a transversion that produces an amino acid change in hemoglobin
a GAG coding for glutamate changes to GTG coding for valine
Werner syndrome
causes premature aging
WRN gene encodes a helicase
several mutation can lead to Werner, most are nonsense mutation causing a shorter protein
percent of DNA comprise codons
1.5%
term used to indicate a mutation that altered the DNA did not change the amino acids
synonymous
recognizable variation between DNA sequences, consequential or inconsequential
polymorphism
DNA change of a single base pair
SNP (snip) single nucleotide polymorphism
mutation of one base pair for another
point mutation
mutation changing purine for purine or pyrimidine for pyrimidine
transition
mutation changing purine for pyrimidine or vice-versa
transversion
nucleotide change that results in different amino acid
missense mutation
change in the nucleotide sequence that causes a stop code instead of an amino acid
nonsense mutation
mutation that changed no amino acids
silent mutation
deletions and insertions
indels
mutation that shifts the entire triplet coding sequence down, extremely destructive
frameshift mutation
huntington’s repeats range
11-35 repeats
36 repeats or more cause degeneration of cerebral cortex in midlife.
the more repeats, the earlier
