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z PP1: Cell Bio > Chapter 14 > Flashcards

Chapter 14 Flashcards

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Biology 101 flashcards
1
Q

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

A

True

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2
Q

Definition of polymorphism

A

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

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3
Q

What are the types of chromosomal alterations

A

deletion
duplication
inversion
translocation

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4
Q

Copy number variation

A

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

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5
Q

What is SNP

A

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

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6
Q

What is an example of a gene family

A

hemoglobin

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7
Q

What is differential gene expression with respect to hemoglobin

A

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

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8
Q

Genome sequences are used to establish ___________ ______________

A

evolutionary relationships

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9
Q

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

A

True

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10
Q

What are two examples of the relationship between organisms and complexity

A

Protein Complexes
Protome is Large (alternative splicing)

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11
Q

Silent Mutations

A

Do not affect protein function (phenotypic effect)

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12
Q

Loss of Function mutation

A

codes for nonfunctional proteins (phenotypic effect)

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13
Q

Gain of function mutation

A

codes for a protein with new function (phenotypic effect)

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14
Q

Conditional mutation

A

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

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15
Q

Point Mutations

A

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

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16
Q

Chromosomal Mutation

A

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

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17
Q

Single base pair mutation

A

Not seen in proofread

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18
Q

Silent Mutations (synonymous)

A

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

19
Q

Missense Mutation

A

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

20
Q

Nonsense Mutation

A

stop codon introduced early
almost always harmful
(point mutation)

21
Q

Frame-Shift Mutation

A

bases inserted or deleted
(point mutation)

22
Q

4 types of chromosomal mutations

A

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

23
Q

Wild-type sequence

A

most common DNA sequence in the population

24
Q

DNA damage from

A

spontaneous DNA decay
environmental mutagen

25
Q

Mismatch Repair

A

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

26
Q

Base Excision Repair

A

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

27
Q

Nucleotide Excision Repair

A

Change many nucleotides

28
Q

Mutations are ___________. Example? Unconnected to an organism ______

A

Random
Yield antibiotic resistant
needs

29
Q

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

A

genetic diversity, uniqueness

30
Q

How are VNTRs used in fingerprinting?

A

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

31
Q

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

A

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

32
Q

What is copy number variation and how is it genotyped?

A

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

33
Q

What is trisomic? Monosomic?

A

1 extra chromosome
1 less chromosome

34
Q

What is nondisjunction?

A

causes an abnormal number of chromosomes in all the cells

35
Q

What is aneuploidy

A

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

36
Q

What is a triploid?
Polyploidy?
Tetraploid?

A

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

37
Q

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

A

Down Syndrone

38
Q

What is the difference between trisomy and triploid?

A

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

39
Q

What is a karyotype? What is it used for?

A

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

40
Q

translocation

A

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

41
Q

inversion

A
  • a segment of the chromosome breaks off and reattaches in the reverse direction
42
Q

duplication

A

one or more copies of a DNA segment is produced

43
Q

deletion

A

the absence of a segment of DNA

44
Q

What are the four point mutations?

A

Silent Mutations
Missense Mutation
Nonsense Mutation
Frame-Shift Mutation

z PP1: Cell Bio (18 decks)

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