Exam 1 Flashcards
(103 cards)
1
Q
Allele
A
A variation on a gene. Interactions between alleles cause dominance relationships.
2
Q
Dominant Allele
A
Expresses phenotypically if appears in homozygous or heterozygous.
3
Q
Haplosufficient
A
Where only one allele is needed for a phenotype to be expressed.
4
Q
Haploinsufficient
A
Where both chromosomes need to contain the same allele for a phenotype to be expressed.
5
Q
Loss-of-function allele
A
Allele that results in less protein activity, and thus results in less function.
6
Q
Gain-of-function allele
A
Allele that results in more protein activity, and thus results in new function.
7
Q
Null Mutation
A
aka Amorphic Mutation. Complete loss of function in a gene.
8
Q
Leaky Mutation
A
aka Hypomorphic Mutation. Partial loss of gene function.
9
Q
Hypermorphic Mutation
A
Mutation leading to excessive amounts of gene function/ protein activity.
10
Q
Neomorphic
A
New gene function.
11
Q
Incomplete/ Partial Dominance
A
Phenotypic expression where traits are more similar to one homozygous phenotype than the other.
12
Q
Codominance
A
Detectable expression of both alleles in heterozygotes.
13
Q
Allelic Series
A
Spectrum of alleles in dominance and activity of protein product.
14
Q
Temperature Sensitive Allele
A
Allele that changes expression based on temperature.
15
Q
Lethal Mutation
A
Kills organism
16
Q
Sex Limited Traits
A
Aw Yeah
17
Q
Sex Influenced Traits
A
Autosomal trait that is expressed differently based on sex.
18
Q
Delayed Age of Onset Trait
A
Have your balls dropped?
19
Q
Penetrant
A
Phenotype matches genotype
20
Q
Nonpenetrant
A
Phenotype does not match genotype.
21
Q
Incomplete Penetrance
A
Phenotype kind of matches genotype?
22
Q
Variable Expressivity
A
Variation in the degree of expression of a phenotype.
23
Q
Gene - environment interaction
A
Gene interacts with environment.
24
Q
Pleiotropy
A
Alteration of multiple traits by modifying one gene.
25
Biosynthetic Pathway
Network of interacting genes that act to produce a molecule or compound.
26
One gene one enzyme hypothesis
cool
27
Epistasis
Gene interactions in which the expression of one gene changes or prevents the expression of another. XIST?
28
Complementation
Organisms with the same abnormal phenotype produce the same wild-type phenotype.
29
Mutation Frequency in Haploids
Number of mutations that occur in a single gene.
30
Mutation Frequency in Diploids
of mutational events that occur in a gene over a period of time, for example one generation.
31
Larger genomes have _______ mutation frequency than smaller genomes.
Larger genomes have higher mutation frequency than smaller genomes.
32
Some genes have ________ tendency to mutate than others.
Higher or lower. Lol bad flashcard.
33
Point Mutation
Localized Mutations at specific locations
34
Mutations occur _______ and _____ in response to the environment
Mutations occur randomly and not in response to the environment.
35
Base Pair Substitutions
Transition, transition.
36
Silent Mutation
Substitution of base pair without any affect on the amino acid sequence. Produces same AA as wild-type. Code is redundant.
37
Missense Mutation
Results in amino acid change to protein.
38
Nonsense Mutation
Creates a stop codon in place of an AA codon.
39
Frameshift Mutation
Alteration of reading frame of codon sequence due to removal or addition of a base pair.
40
Regulatory Mutation
Mutation in non-coding regions such as promoters, introns, or splicing regions.
41
Promoter Mutation
A type of regulatory mutation. Causes issues with beginning transcription.
42
Splicing Mutation
Affects the splicing of introns and exons.
43
Cryptic Mutation
Creation of new splice sites that compete with real splicing sites in pre-mRNA processing.
44
Forward Mutation
Mutation that changes phenotype from wild-type.
45
Reverse Mutation
Mutation that changes phenotype back to wild-type or near wild-type.
46
Intragenic Reversion
Mutation in the same mutated gene that reverts phenotype.
47
Second Site Reversion
Mutation in another gene that causes reversion. Compensates for first mutation.
48
Spontaneous Mutation
Naturally occurring mutations without exposure to chemical, biological, or physical damage.
49
Strand Slippage
Mutations altering number of DNA repeats in highly repeating zones.
50
Tautomeric Shift
Change in nitrogenous base to a tautomer that will be base paired with a different complement from the normal A-T G-C system. Changes that base pair.
51
Deamination
Removal of an amino group from a nucleotide base.
52
Depurination
Loss of one purine from from a nucleotide by breakage of the covalent bond at the carbon of the deoxyribose. Purines lost usually replaced by free nucleic acids.
53
Induced Mutation
Mutation caused by biological, chemical, or physical damage.
54
Mutagen
Agent that causes mutation.
55
Radiation can cause
Photoproducts, pyrimidine dimers, and opening of double strand.
56
Photoproduct
Production of aberrant structures through additional bonds.
57
Pyrimidine Dimers
A photoproduct. Additional covalent bond between two adjacent thymines that pull the two closer together and cause disruption of hydrogen bonds with complementary base pairs.
58
Photoreactive Repair
Uses light energy to break covalent bonds formed from pyrimidine dimerization.
59
Repair of damage from alkylating agents.
An enzyme that pulls off alkyl groups from DNA.
60
UV repair
excision of strand containing the photoproduct, and synthesis of new DNA.
61
Ames Test
Test that exposes bacteria with certain mutations to experimental mutagens to see whether reversion occurs. Also exposes to liver enzymes to see whether liver products are mutagens as well.
62
Interphase
Long period between the M phase.
63
M Phase
Short period of cell division.
64
Parts of M Phase
G1, S, G2, Prophase, Prometaphase, Metaphase, Anaphase, Telophase.
65
S Phase
DNA replication
66
G1 Phase
Gap 1 - translation of protein products necessary for cellular function.
67
G2 Phase
Prepare for division. Organelles double. Cytoplasm doubles. EVERYTHING DOUBLES.
68
Prophase
Supercoiling of chromosomes. Centrosomes form.
69
Prometaphase
Chromosomes migrate to equator.
70
Metaphase
Chromosomes are in the center. Spindle fibers pull on chromosomes.
71
Anaphase.
Jazz hands.
72
telophase
Splitting of the cytoplasm into two daughter cells.
73
Chromosome Disjunction
Separation of sister chromatids.
74
Karyokinesis
Equal partitioning of chromosome material.
75
Cytokinesis
Partitioning of all the cytoplasmic contents of the parental cell into daughter cell.
76
Centromere
Specialized DNA sequence on each chromosome where sister chromatids are joined together.
77
Kinetochore
Protein complex that facilitates chromosome division later in M phase. Sticks right on centromere area.
78
Centrosome
Organelles that migrate to poles of the cell.
79
Centriole
Subunit of centrosome. 2 at each pole.
80
Spindle Fiber Microtubule
Polymers that elongate and shorten by addition or subtraction of tubulin.
81
Tubulin
Polar proteins that make up the microtubules.
82
Aster
360* shape of the centrosome-spindle complex.
83
Kinetochore Microtubule
Attaches to chromosome
84
Polar Microtubule
Attaches to each other.
85
Astral Microtubule
Attaches to membrane
86
Metaphase Plate
Line at equator where chromosomes line up
87
Sister chromatid cohesion
Protein Cohesin is the glue.
88
Synapsis
Alignment of Homologous Chromosomes
89
Synaptonemal Complex
tri-layer protein structure that bind homologous chromosomes together.
90
Recombination Nodules
Enzymes that carry out exchange of genetic material between nonsister chromatids across homologous chromosomes.
91
Chiasmata
Locations of contact between nonsister chromatids where crossing over has occurred.
92
Euploid
Whole number multiple of haploid number.
93
Aneuploid
Not whole number multiple of haploid number.
94
Nondisjunction
Failure of sister chromatids or homologous chromosomes to separation during meiosis I or II.
95
Gene Dosage
Number of copies of a gene.
96
Aneuploidy in Humans
24 kinds in theory but really only mess ups in 13, 18, and 21 are seen with any frequency. Observed 15% - 25% frequency of meiotic non-disjunction.
97
Monosomy
XO - Turner syndrome. Haploinsuffinciency of some gene.
98
Trivalent Synaptic Structure
3 homologous chromosomes tie up together in Meiosis i.
99
Bivalent and univalent Synaptic Structure
2 homologous chromosomes, and 1 by itself.
100
Semisterility
Half of gametes don't work and/or messed up.
101
Mosaicism
When different cells across the body have differently functioning X chromosomes.
102
Gynandromophy
Half of body is male, other half is female.
103
Uniparental Disomy
Both homologous chromosomes come from one parent. Caused by either nondisjunction in both male and female gametes, or chromosome rescue occurs when nondisjunction occurs in one parent.
