Mutations and DNA repair part 1 Flashcards Preview

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Flashcards in Mutations and DNA repair part 1 Deck (24):
1

sickle-cell anemia

a transversion that produces an amino acid change in hemoglobin
a GAG coding for glutamate changes to GTG coding for valine

2

Werner syndrome

causes premature aging
WRN gene encodes a helicase
several mutation can lead to Werner, most are nonsense mutation causing a shorter protein

3

percent of DNA comprise codons

1.5%

4

term used to indicate a mutation that altered the DNA did not change the amino acids

synonymous

5

recognizable variation between DNA sequences, consequential or inconsequential

polymorphism

6

DNA change of a single base pair

SNP (snip) single nucleotide polymorphism

7

mutation of one base pair for another

point mutation

8

mutation changing purine for purine or pyrimidine for pyrimidine

transition

9

mutation changing purine for pyrimidine or vice-versa

transversion

10

nucleotide change that results in different amino acid

missense mutation

11

change in the nucleotide sequence that causes a stop code instead of an amino acid

nonsense mutation

12

mutation that changed no amino acids

silent mutation

13

deletions and insertions

indels

14

mutation that shifts the entire triplet coding sequence down, extremely destructive

frameshift mutation

15

huntington's repeats range

11-35 repeats
36 repeats or more cause degeneration of cerebral cortex in midlife.
the more repeats, the earlier

16

types of chromosome mutation

deletion, duplication, inversion
insertion, translocation

17

depurination

hydrolysis of guanine or adenine, removing it from the DNA

18

deamination

converts cytosine to uracil

19

oxygen damaged guanine

8oxoG or 8-hydroxyguanine
then pairs to adenine and cases G:C to T:A transversion

20

oxygen that attacks DNA

reactive oxygen species (ROS)

21

x-rays cause

double-stranded DNA breaks, attack the deoxyribose in the backbone, also produce ROS

22

broken section of DNA

nick

23

missing section of DNA

gap

24

broken section of DNA on both strands

dsb double strand break