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Final Review Flashcards

1
Q

what is genetics

A

the science of heredity and study of how traits and diseases are passed from one generation to the next

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2
Q

what are genes?
Chromosomes?
homologous pairs?

A

genes: physical unit of heredity
chromosomes: long molecules of double stranded DNA which contains genes
homologous pairs: chromosomes that carry genes for the same traits

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3
Q

types of chromosomes and what they mean

A

metacentric-centromere in the middle
submetacentric-centromere slightly off center
acrocentric-centromere close to end
telocentric-centromere at the end(no P arm)

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4
Q

3 essential components of nucleotides

A

Nitrogenous base
pentose sugar
phosphate group

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5
Q

replicate vs reciprocal vs test crosses

A

Replicate: repeating the same cross several times
Reciprocal: crossing the same genotypes but reversing the sex of the parents
Test: crosses to determine unknown genotype

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6
Q

ideal phenotypic ratio of F2 generation in a dihybrid cross? what happens to the ratio for a test cross of a heterozygous individual?

A

Standard Cross- 9:3:3:1

Test Cross: 1:1:1:1

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7
Q

what separates in meiosis I? meiosis II?

A

meiosis I: tetrads separate
meiosis II: sister chromatids separate

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8
Q

what keeps sister chromatids together during mitosis and meiosis

A

cohesin

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9
Q

stages of prophase I

A

leptonema
zygonema
pachynema
diplonema
diakinesis

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10
Q

what happens in pachynema and diplonema

A

crossing over

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11
Q

sex linked vs sex limited vs six influenced

A

Linked: traits determined by genes located on gametes
Limited: expression of phenotype is absolutely limited to one sex
Influenced: phenotype is influenced by sex, but not limited to one

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12
Q

when does oogenesis arrest

A

diplonema

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13
Q

what is chromosomal nondisjunction?
how does it affect ploidity?

A

it is failure of chromosomes to properly separate during cell division.
it can lead to abnormal chromosome numbers

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14
Q

main categories of structural aberrations that can occur in mammalian chromosomes

A

Deletion
Deletion and Duplication
Inversion
Translocation

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15
Q

what does acentric mean?
how does it occur after chromosomal break and terminal deletion?

A

acentric means the chromosome lacks a centromere.
it occurs when a part of the chromosome arm breaks off

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16
Q

2 types of inversion and their consequences

A

parAcentric: centromere outside inverted region
parIcentiric: centromere inside inverted region

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17
Q

what inversion type leads to tobiano coat color in horses

A

parAcentric

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18
Q

what is a deletion, what are its consequences

A

deletions are loss of a part of one chromosome arm
-small deletions have little/no phenotypic effects
-multigenic deletions cause loss of genetic material that can affect phenotype

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19
Q

2 main types of translocation

A

nonreciprocal: a piece of one chromosome is translocated to a non homolog and their is no reciprocal event

reciprocal: pieces of 2 non homologs switch places

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20
Q

what is the Philadelphia chromosome?
What is its homolog in dogs?

A

Philadelphia chromosome is caused by a reciprocal translocation

-Raleigh chromosome in dogs

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21
Q

what are extensions of mendelian inheritance

A

linkages that lead to unequal segregation and non independent assortment

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22
Q

genotypic and phenotypic ratio for incomplete and co-dominance

A

1:2:1 for all

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23
Q

6 modification on the 9:3:3:1 ratio

A

complementary
duplicate
dominant
recessive epistasis
dominant epistasis
dominant supression

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24
Q

what does complementary analysis distinguish?

A

it distinguishes mutations in the same gene from mutations in different genes

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25
penetrance vs expressivity
Penetrance: probability of a gene being expressed Expressivity: variability in presentation of the phenotype in penetrant individuals
26
complimentary gene modification -phenotypic ratio -what it is
9:7 flows through a pathway, both dominant alleles create wild type, absence of one or both dominant alleles leads to mutant phenotype
27
dominant gene interaction -phenotypic ratio -what it is
-9:6:1 -homozygous dominant produces one phenotype -heterozygous produces a second phenotype -homozygous recessive produces a third
28
recessive epistasis -phenotypic ratio -what it is
-9:3:4 -a recessive allele at one locus will mask the phenotypic expression of the allele at a second locus(EX. lab coat colors)
29
dominant epistasis -phenotypic ratio -what it is
-12:3:1 -dominant allele at one locus masks phenotypic expression of the allele at a second location(EX> summer squash color)
30
dominant suppression -phenotypic ratio -what it is
-13:3 -dominant suppressor at locus 1 can mask dominant allele at locus 2
31
T/F a 2 point linkage map is the most effective way to build genetic maps
FALSE. 3-point is more effective
32
what is the transforming agent for bacterial transformation?
DNA
33
what is the most significant nucleoside phosphate?
NTP(precursor to ATP)
34
5 types of DNA polymerase and their properties
Pol I: remove primer and fill gaps Pol II: repair DNA damage and replication fork Pol II: proofreading Pol IV and V: repair DNA damage
35
what is RNA priming
universal feature of initiation of DNA replication
36
steps of DNA replication
-unwind and stabilize DNA helix -initiation of DNA synthesis, synthesis of RNA primers -DNA synthesis -proofreading and error correction
37
where does transcription occur in the cell
in the nucleus
38
what is needed to make the RNA ploymerase holoenzyme
sigma subunit
39
how many different types of RNA polymerase are there for bacteria
ONE
40
inverted repeats vs rut sites
Inverted: form hair pin loop followed by series of U's to slow RNA polymerase Rut-site: Rho protein binding to form termination sequence and release RNA polymerase
41
3 types of RNA pol and what they transcribe for
Pol I: rRNA Pol II: mRNA Pol III: tRNA
42
3 eukaryotic promoter consensus sequences
TATA box CAAT box GC rich box
43
2 prokaryotic promoter consensus sequences
pribnow box -35 sequence
44
3 types of post-translational processing? what moves into the cytosol after?
5' capping 3' polyadenylation intron splicing mature mRNA enters cytosol
45
where does translation occur in the cell
cytosol
46
steps of translation
-ribosome of large and small subunit hold mRNA to dock it -incoming tRNA is charged and carries AA to A site -tRNA aligns anticodons with mRNA codons and moves to P site -AA attached to polypeptide -tRNA exits at E site no longer chraged
47
main function of small and large ribosomal subunit
facilitate translation
48
function of P. A, and E sites in translation
P: holds tRNA which polypeptide is attached A: binds new tRNA containing an AA to be added to the polypeptide E: exit site for tRNA
49
3 phases of translation
initiation elongation termination
50
main components of translation in eukaryotes
eukaryotic initiation factors
51
main components of translation in prokaryotes
initiation factor preinitiation complex shine-dalgarno sequence
52
what is isoaccepting? how does it apply to the wobble hypothesis?
it is tRNA molecules with different anticodons for the same AA. allowed by wobble hypothesis which is relaxation of pairing rules at the third base pair of the codon
53
what is the last component needed for initiation of translation
large subunit
54
2 types of prokaryotic gene regulation
negative and positive control
55
what makes a repressible operon system
gene end product represses gene expression
56
what makes an inducible operon system
induced by a certain environment
57
how does negative control in the lac operon work based on presence of lactose
present: lactose binds to repressor and changes conformation to prevent it from binding to operator region absent: repressor binds to operator region preventing transcription
58
why is tryptophan operon considered repressible
repressor is normally inactive, presence of tryptophan activates repressor
59
binding of which complex increases ability of RNA polymerase to transcribe the lac-operon
Cap-cAMP
60
2 major mechanisms of epigenetic changes
Methylation: reversible Histone modification/chromatin remodeling: alter accessibility of genes
61
N-term region of histone tails in AA can be modified by what 3 mechanisms
Acetylation(activate) Phosphorylation(activate) Methylation(repress or activate)
62
what is the second most common regulation
post transcriptional regulation
63
roles or DICER and RISC? what system do they occur?
DICER: cleaves dsRNA into 21 fragments RISC: combine miRNA and siRNA to remove one dsRNA involved in mRNA silencing
64
mutations vs DNA polymorphisms
Mutations: uncommon, but lead to phenotype change Polymorphism: more common, but usually neutral
65
4 mutation categories
spontaneous induced somatic germ-line
66
point mutation
change of one base pair into another
67
missense mutation
point mutation resulting in AA change
68
nonsense mutation
point mutation resulting in a stop codon instead of an AA
69
silent mutation
point mutation that codes for the same AA
70
2 base pair mutations
transition: pyrimidine replaces pyrimidine and purine for purine transversion: pyrimidine for purine or vice versa
71
3 reversion mutations
true reversion: one mutation creates missense, second mutation reverts it back to wild type intragenic reversion: deletion mutation, corrected by a second addition mutation second-site reversion: 3 genes make phenotype, mutation one changes function of one gene changing phenotype, mutation 2 changes function of another gen to cancel out first mutation
72
what type of mutation leads to size of Shetland ponies
missense
73
2 repair systems for DSBs
-NHEJ -homologous recombination repair
74
what type of testing determines if a person is a carrier for a recessive disease
carrier genetic testing
75
is newborn genetic screening mandated in all 50 states
yes
76
what are the non invasive prenatal genetic techniques
Maternal serum screening
77
what is fetal cell sorting? what diseases can it identify?
DNA and chromosome analysis identifies cystic fibrosis and spinal muscular atrophy
78
cancer cells are _____, meaning they look and behave more like ______ cells.
dedifferentiated, primordial
79
what is metastasis
malignant tumor that moves to a new location and forms new tumors
80
T/F mutations in DNMT3A gene occur early in certain leukemias, normally its product helps methylate chromatin for gene silencing
TRUE
81
genes linked to increased susceptibility to breast and ovarian cancers
BRCA1 and BRCA2
82
T/F STRs are more than 10 bp while VNTRs are less than 10 bp
FALSE. VNTRs are typically longer and STRs are shorter
83
CODIS was written by the FBI and currently uses 13 _____ markers
short tandem repeat (STRs)
84
purpose of ampicillin
select for transformants that have picked up a plasmid (with or without your DNA)
85
steps of WGS
digestion sequencing alignment contig overlap gene ID/bioinformatics
86
T/G genomic imprints are erased in the gem cells
TRUE
87
what is genomic imprinting caused by
methylation
88
order of drosophila embryo development
fertilized egg nuclear division and migration syncytial blastoderm cellularization cellular blastoderm
89
pattern of expression of pair rule genes in drosophila embryo? Segment polarity? gap gene?
Pair rule: 7 strips corresponding to every other segment boundary Segment polarity: 14 strips gap gene: single strip

Genetics (22 decks)

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