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Genetics test 3 > Test 3 > Flashcards

Test 3 Flashcards

1
Q

Aneuploidy

A

loss or gain of 1 chromosome

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2
Q

monosomy

A

loss of 1 chromosome

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3
Q

trisomy

A

gain of 1 chromosome

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4
Q

Triploid

A

3 haploid sets of chromosomes instead of the normal 2

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5
Q

Down syndrome is consistent with

A

Trisomy

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6
Q

Monosomy

A

Fatal, single lethal allele, haploinsufficiency- only 1 essential gene that wont support survival function

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7
Q

Polyploidy

A

Most frequent in plants when more than 2 complete haploid sets are present

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8
Q

Autopolyploidy

A

+1 chromosome set form same species

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9
Q

Allopolyploidy

A

+1 chromosome set from diff species

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10
Q

organism that carries an entire extra haploid set of chromosomes

A

Triploid

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11
Q

Hemizygous

A

individual with only 1 copy of a gene rather than the usual 2

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12
Q

monosomatic

A

only 1 copy of chromosome rather than the usual 2

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13
Q

Trisomic

A

copy of 3 individual chromosome instead of the usual 2

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14
Q

inversion

A

chromosomal rearrangement where a segment of a chromosome breaks off and reattaches in the reversed orientation

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15
Q

translocation

A

segment of one chromosome breaks off and reattaches to another chromosome

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16
Q

intrachromosomal

A

same chromosome

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17
Q

interchromosomal

A

different chromosome

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18
Q

mix of both healthy and defective mitochondria

A

heteroplasmy

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19
Q

paracentric

A

away from the centromere

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20
Q

pericentric

A

around or near the centromereq

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21
Q

MERRF (myoclonic epilepsy and ragged red fiber)

A

red blotchy skeletal muscle and heteroplasmy

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22
Q

Leber’s hereditary optic neuropathy ( LHON)

A

bilateral blindness

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23
Q

Kearns- Sayre Syndrome (KSS)

A

vision and hearing loss

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24
Q

Sanger sequencing single gene

A

caused a genomic revolution

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25
WGS
map entire sequence, computer assisted, shotgun sequencing
26
Draft genome
mapped to a large extent w/ some holes, still needs work to be published
27
Reference genome
wild type version of sequence, not 100 % accurate
28
Bioinformatics
uses computer and math
29
Functional Oecomics
Predict gene and protein function
30
paralogs
homo genes w/ same species
31
orthoogs
home genes diff species
32
analogs
no evolutionary relationship
33
ChIP (Chromatin Immunoprecipitiation)
Ids genes by transcription factors, proteins fixed using formaldehyde. dna into small fragment, antibodies used to ID dna, dna purified from proteins AD- fast, well established, genome wide analysis Dis- antibody specificity
34
genetic screens
done to see what kind of genes the person has and if they are at risk for a certain type of disease
35
Only thing that can develop into another tumor
cancer stem cells
36
A normal cell turns to a cancerous cell through
too many driver mutations
37
Oncogenic mutations in genes are involved in
mutations apoptosis cell cycle
38
G0
no internal or external signals once they die they die, heart brain and stem.
39
serial analysis of gene expression (SAGE)
isolate whole RNA Convert mRNA into cDNA through reverse transcriptase single concatemer AD- direct and no requirements DIs- low throughput
40
Microarray
whole RNA fluorescent tagged poly dt- primers hybridize samples ADV- uses fluorescence instead of radiation data analysis complicated
41
epigenomics
he study of the effects of chemical modifications on DNA and histones that can alter gene expression without changing the DNA sequence itself.
42
Transcriptomics
the study of the entire collection of RNA molecules, or the transcriptome, present in a cell, tissue, or organ at a given time
43
proteomics
the large-scale study of proteins, focusing on their composition, structure, expression, modifications, and interactions
44
Mass spectometry
uses spectrometer ADV- accurately identifies and quantifies DIS must be high quality proteins and homologous
45
Forward Genetics
Begining with phenotypic trait and trying to find the gene that controls it and what mutation happed for that to occur
46
Reverse genetics
Start out with a gene to mutate and then introduce a mutation to see what phenotype is the consequence for that mutation.
47
All has to do with Aging, metabolism ,cell cycle and disease phenotypes
forward genetics
48
Cre-LoxP system is what kind of technique
reverse genetics
49
Enhancer screens
start with identified mutant strain, look for other mutations in other genes that could also add to phenotype
50
Suppressor screens
begin with identified mutant strain, search for additional mutations in other genes that reverse a phenotype - identifies genes that work in the same pathway are each other
51
comparative genomics
a field that compares genome sequences across different species to understand evolutionary relationships, gene function, and the impact of natural selection
52
Endogenous
Things that come from inside the body that disrupt the cell cycle
53
Exogenous
outside the body that could cause mutations and disrupt the cell cycle - UV - Chemical carcinogens - radiation
54
Cancer
uncontrolled cell division
55
Cancer has 2 traits
Proliferation Metastasis
56
G1 checkpoint does what
Cell must go through this check point to either divide or apoptosis, must go exo and endo checklist to proceed through.
57
Tumor suppressor genes
will go to high levels if there is a detected problem with dna - will stay until the dna is fixed - if too high for too long they will send DNA to apoptosis -inhibits cell division
58
proto-oncogene
pushes for cell division
59
What regulates the cell cycle
Cyclins and cdks
60
Drivers
og mutatuons and make a cell cancerous (transformation)
61
Passengers
Additional mutations, these occur after transformation, can be different and vary depending on tumor and cancer cells
62

Genetics test 3 (1 decks)

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