Genetics: Mutations and DNA Repair

Practice fill-in-the-blank flashcards covering Chapter 14 lecture notes on gene mutations, classification of point mutations, frameshifts, mutagenic agents, and related genetic disorders.

Mutations that occur in __________ cells are passed along to the next generation, unlike somatic mutations.

germ (or gametes)

The coding regions of DNA are called exons, whereas the noncoding spacer regions are known as __________.

introns

Roughly __________ of human DNA actually codes for proteins, while the rest serves as spacer regions.

$$50\%$$

Carriers of the sickle cell anemia mutation have an improved survival advantage because they are resistant to __________.

malaria

The mutagen __________ has a structure similar to uracil and thymine, contains a bromine group, and increases cellular sensitivity to UV light.

5-bromouracil

The mutagenic chemical abbreviated as EMS stands for __________.

ethylene methyl sulfonate

A point mutation that replaces a purine with another purine or a pyrimidine with another pyrimidine is called a __________ mutation.

transition

A point mutation that interchanges a purine with a pyrimidine (or vice versa) is termed a __________ mutation.

transversion

A base substitution that does not change the specified amino acid due to code redundancy is called a __________ mutation.

silent

A __________ mutation changes an amino acid to a different one within the exact same chemical group, leading to very little change in protein folding.

conservative

A mutation that disrupts or destroys the __________ codon is defined in the lecture as a nonsense mutation.

start or stop

In sickle cell anemia, codon number 6 changes from GAG to GTG, replacing glutamic acid with __________.

valine

In Cooley syndrome, codon number 6 undergoes a mutation from GAG to __________.

AAG

Insertions or deletions of nucleotides disrupt the triplet reading frame and produce __________ mutations.

frameshift

In Tay Sachs disease, a single defective transport molecule incorrectly deposits extra fat into the __________ instead of storage areas like the belly.

brain