Central Dogma: DNA Mutations

Question 1

Mutations

Answer 1

Change in DNA sequence; Occur during DNA replication / due to DNA damage

Question 2

DNA → RNA → Protein → Trait

Answer 2

Change in DNA → Protein can chnage; Proteins dtermine traits by controlling cell structure + function

Question 3

Effects of Mutations

Answer 3

No effect (silent); Change protein (missense); Stop protein entirely (nonsense)

Question 4

Types of Mutations

Answer 4

Occur at different scales (small vs large) → Affect genes / entire chromosomes

Question 5

Small Scale Mutations

Answer 5

Gene Level; Point mutations + Insertions / Deletions

Question 6

Large Scale Mutations

Answer 6

Chromosome level; Translocations + Duplications + Inversions

Question 7

Point Mutation

Answer 7

Single base change

Question 8

Point Mutation Types

Answer 8

Silent; Missense; Nonsense

Question 9

Silent Mutation

Answer 9

No change (same amino acid) due to genetic code redundacy

Question 10

Missense Mutation

Answer 10

Different amino acid → May alter protein folding (tertiary structure) + function

Question 11

Nonsense Mutation

Answer 11

Stop codon; Earlier stop → More severe (truncated protein)

Question 12

Sickle Cell

Answer 12

Caused by missense mutation; Single base substitution in hemoglobin gene; Single amino acid change dramatically alters hemoglobin structure + function; Hemoglobin molecules stick together → Red blood cells become sickle-shaped → Reduced oxygen delivery

Question 13

Frameshift Mutation

Answer 13

Addition / removal of bases → Shifts reading frame; All downstream codons change → Major proteins disruption

Question 14

Frameshift Mutation Types

Answer 14

Insertions + Deletions

Question 15

Severe Outcomes of FM

Answer 15

Introduces early STOP codon; Produces truncated (often nonfunctional) protein

Question 16

Exception (no frameshift) of FM

Answer 16

Occurs when if 3 bases (or multiples of 3) are added or removed; Only 1 amino acid is added / lost

Question 17

Large Scale Mutations

Answer 17

Chromosome Level; Affect large DNA segments / entire genes; Impact many proteins at once; More severe than point mutations; Disrupt multiple genes + systems

Question 18

Large Scale Mutation Types

Answer 18

Duplication; Deletion; Inversion; Translocation

Question 19

Duplication LSM

Answer 19

Segment is copied

Question 20

Deletion LSM

Answer 20

Segment is lost

Question 21

Inversion LSM

Answer 21

Segment is flipped

Question 22

Translocation LSM

Answer 22

Segment moves to new chromosome