DNA Repair, Mutations

Question 1

Exogenous

Answer 1

Physical-ionizing radiation, UV light, X-rays

Question 2

Endogenous

Answer 2

Chemical-carcinogens, products of metabolism

Question 3

SNP

Answer 3

Single nucleotide polymorphism

Question 4

What’s worst: Insertion/deletion of 3 bps or insert/del. of 1 or 2 bps

Answer 4

Insertion or deletion of 1 or 2 bp changes

Question 5

Splice-site mutations

Answer 5

-Loss of sequences from exon

Exon contains new codons (includes sequences from intron)

Question 6

Promoter vs Enhancer mutation

Answer 6

Promoter: If there is a mutation in the promoter, transcript does not recognize the promoter and transcript will be lost

Enhancer elements: affect the rate of transcription

Question 7

CpG

Answer 7

Near or on the promoter region of mRNA
Aids in epigenetics
When methylated, can inhibit binding of transcription factors to promoter sequences

Question 8

Copy Number Variants

Answer 8

structural genomic changes: when the gene is replicated, some genes on the chromosome are duplicated and others deleted

Involves a gain or loss of entire gene, usually >1kb