Chapter 14

Question 1

A chemical agent that interferes with DNA repair may be considered a mutagen.

Answer 1

True

Question 2

Definition of polymorphism

Answer 2

Any genetic difference among individuals that is present in multiple individuals in a population.

Question 3

What are the types of chromosomal alterations

Answer 3

deletion
duplication
inversion
translocation

Question 4

Copy number variation

Answer 4

the genetic trait involving the number of copies of a particular gene present in the genome of an individual

Question 5

What is SNP

Answer 5

is a variation at a single position in a DNA sequence among individuals

Question 6

What is an example of a gene family

Answer 6

hemoglobin

Question 7

What is differential gene expression with respect to hemoglobin

Answer 7

Adults have less tightly oxygen binding
Fetus has tightly oxygen binding to get oxygen into the placenta

Question 8

Genome sequences are used to establish ___________ ______________

Answer 8

evolutionary relationships

Question 9

There is little relationship between size and number to complexity of organisms

Answer 9

True

Question 10

What are two examples of the relationship between organisms and complexity

Answer 10

Protein Complexes
Protome is Large (alternative splicing)

Question 11

Silent Mutations

Answer 11

Do not affect protein function (phenotypic effect)

Question 12

Loss of Function mutation

Answer 12

codes for nonfunctional proteins (phenotypic effect)

Question 13

Gain of function mutation

Answer 13

codes for a protein with new function (phenotypic effect)

Question 14

Conditional mutation

Answer 14

Seen under restrictive conditions but not permissive conditions (phenotypic effect)

Question 15

Point Mutations

Answer 15

change in single base pair (loss, gain, or substitution)

Question 16

Chromosomal Mutation

Answer 16

Change in segments of DNA (loss, duplication, rearrangment)

Question 17

Single base pair mutation

Answer 17

Not seen in proofread

Question 18

Silent Mutations (synonymous)

Answer 18

change one nucleotide (wobble cause no effect) no change/slight change (point mutation)

Question 19

Missense Mutation

Answer 19

base substitution results in amino acid substitution
defective proteins, altered proteins, no effect
(Sickle-Cell) (point mutation)

Question 20

Nonsense Mutation

Answer 20

stop codon introduced early
almost always harmful
(point mutation)

Question 21

Frame-Shift Mutation

Answer 21

bases inserted or deleted
(point mutation)

Question 22

4 types of chromosomal mutations

Answer 22

Deletions - loss of chromosomal segment
Duplication - repeat of chromosomal segment
Inversion - breaking and rejoining of a segment “flipped”
Translocation - segment of DNA breaks off and inserted into another chromosome

Question 23

Wild-type sequence

Answer 23

most common DNA sequence in the population

Question 24

DNA damage from

Answer 24

spontaneous DNA decay
environmental mutagen

Question 25

Mismatch Repair

Answer 25

mismatched bases (have template strand that is undamaged to repair the damaged strand)

Question 26

Base Excision Repair

Answer 26

Scan DNA for damaged or improper bases (change one base)

Question 27

Nucleotide Excision Repair

Answer 27

Change many nucleotides

Question 28

Mutations are ___________. Example? Unconnected to an organism ______

Answer 28

Random Yield antibiotic resistant needs

Question 29

Mutation per genome per generation. These mutations account for ________ _________ of populations and the __________ of individuals

Answer 29

genetic diversity, uniqueness

Question 30

How are VNTRs used in fingerprinting?

Answer 30

Variable nucleotide tandem repeats Short nucleotide sequences that vary in number between individuals EX: Paternity Test

Question 31

What is an SNP and how does it affect eye color?

Answer 31

Single nucleotide polymorphism occur when a single nucleotide is replaced with another too common to be a mutation

Question 32

What is copy number variation and how is it genotyped?

Answer 32

Differences among individuals in the number of copies of a region of the genome

Question 33

What is trisomic? Monosomic?

Answer 33

1 extra chromosome 1 less chromosome

Question 34

What is nondisjunction?

Answer 34

causes an abnormal number of chromosomes in all the cells

Question 35

What is aneuploidy

Answer 35

the condition of having an abnormal number of chromosomes in a haploid set

Question 36

What is a triploid? Polyploidy? Tetraploid?

Answer 36

an additional set of chromosomes more than two complete sets of chromosomes containing four homologous sets of chromosomes

Question 37

An individual has an extra chromosome 21. What genetic condition is this?

Answer 37

Down Syndrone

Question 38

What is the difference between trisomy and triploid?

Answer 38

trisomy - 1 extra chromosome triploid - 1 extra set of chromosomes

Question 39

What is a karyotype? What is it used for?

Answer 39

Visual image of chromosomes in a cell of an organism. Used to examine chromosomes to identify abnormalities to diagnose different diseases or conditions

Question 40

translocation

Answer 40

a piece of one chromosome breaks off and attaches to another chromosome

Question 41

inversion

Answer 41

- a segment of the chromosome breaks off and reattaches in the reverse direction

Question 42

duplication

Answer 42

one or more copies of a DNA segment is produced

Question 43

deletion

Answer 43

the absence of a segment of DNA

Question 44

What are the four point mutations?

Answer 44

Silent Mutations Missense Mutation Nonsense Mutation Frame-Shift Mutation