North Carolina State University at Raleigh GN 301 NCSU
Exam 2 | Questions with 100% Verified Answers | Latest
Update
Question:
Mutation
Answer:
a change in the genetic material (DNA)
-most are recessive
Question:
Good mutation example
Answer:
sickle cell anemia (malaria)
Question:
Bad mutation example
Answer:
somatic mutation can cause cancer
Question:
Point mutation
Answer:
substitution of one base pair for another
Question:
Transition
Answer:
type of point mutation of a purine to purine or pyrimidine to a pyrimidine
Question:
Purine
Answer:
A and G
Question:
Pyrimidines
Answer:
,Cytosine and Thymine
Question:
Point mutation example (2)
Answer:
Hemoglobin (half on beta and half on alpha) Sickle Cell anemia
- best to be a carrier to fight malaria and live; no SC trait means you can easily get
malaria; both recessive means you have all sickle cells which cant carry oxygen well
Question:
frameshift mutation
Answer:
insertion or deletion of a base pair; alters reading frame from the altered codon to end of protein
Question:
Cystic Fibrosis (mutation/disorder description)
Answer:
- mutation in CFTR Gene on chromosome 7
- 2/3 of world and 90% due to deletion of 3 pairs (1 codon)
- In Jewish population nonsense mutation
Question:
Tay-Sachs disease
Answer:
-lysosome break down materials
-fatty substance build up in the brain
- 4 base pairs insertion in exon 11
Question:
Disorders involving Trinucleotide Repeats
Answer:
Huntington's Fragile X syndrome (CGG on X chrom)
- Long chin bone disease
Question:
Anticipation
Answer:
disorders present earlier and/or are more severe in later generations
, Question:
Nonsense
Answer:
protein stops early
Question:
Missense/nonsynonymous
Answer:
different codon and different amino acid so it is a different protein (Point Mutations)
Question:
Silent/Synonymous
Answer:
different codon; same amino acid in protein (point mutation)
Question:
Rate of spontaneous mutation
Answer:
1/100,000 per gene per cell
- 1/5 of gamete will have a mutation somewhere
Question:
Mutagen
Answer:
agent that raises rate of mutation above spontaneous rate
- example: radiation, UV light, xray
Question:
Ames test
Answer:
A procedure using bacteria to identify potential carcinogens; determines which chemical causes
most mutations
Question:
Effects of UV
Answer:
mutation caused is pyrimidine dimer (mainly thymine, changes DNA Shape with covalent bond)
Xeroderma pigmentosum
- defected repair mechanism to UV
Exam 2 | Questions with 100% Verified Answers | Latest
Update
Question:
Mutation
Answer:
a change in the genetic material (DNA)
-most are recessive
Question:
Good mutation example
Answer:
sickle cell anemia (malaria)
Question:
Bad mutation example
Answer:
somatic mutation can cause cancer
Question:
Point mutation
Answer:
substitution of one base pair for another
Question:
Transition
Answer:
type of point mutation of a purine to purine or pyrimidine to a pyrimidine
Question:
Purine
Answer:
A and G
Question:
Pyrimidines
Answer:
,Cytosine and Thymine
Question:
Point mutation example (2)
Answer:
Hemoglobin (half on beta and half on alpha) Sickle Cell anemia
- best to be a carrier to fight malaria and live; no SC trait means you can easily get
malaria; both recessive means you have all sickle cells which cant carry oxygen well
Question:
frameshift mutation
Answer:
insertion or deletion of a base pair; alters reading frame from the altered codon to end of protein
Question:
Cystic Fibrosis (mutation/disorder description)
Answer:
- mutation in CFTR Gene on chromosome 7
- 2/3 of world and 90% due to deletion of 3 pairs (1 codon)
- In Jewish population nonsense mutation
Question:
Tay-Sachs disease
Answer:
-lysosome break down materials
-fatty substance build up in the brain
- 4 base pairs insertion in exon 11
Question:
Disorders involving Trinucleotide Repeats
Answer:
Huntington's Fragile X syndrome (CGG on X chrom)
- Long chin bone disease
Question:
Anticipation
Answer:
disorders present earlier and/or are more severe in later generations
, Question:
Nonsense
Answer:
protein stops early
Question:
Missense/nonsynonymous
Answer:
different codon and different amino acid so it is a different protein (Point Mutations)
Question:
Silent/Synonymous
Answer:
different codon; same amino acid in protein (point mutation)
Question:
Rate of spontaneous mutation
Answer:
1/100,000 per gene per cell
- 1/5 of gamete will have a mutation somewhere
Question:
Mutagen
Answer:
agent that raises rate of mutation above spontaneous rate
- example: radiation, UV light, xray
Question:
Ames test
Answer:
A procedure using bacteria to identify potential carcinogens; determines which chemical causes
most mutations
Question:
Effects of UV
Answer:
mutation caused is pyrimidine dimer (mainly thymine, changes DNA Shape with covalent bond)
Xeroderma pigmentosum
- defected repair mechanism to UV
