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COB 2016 comp -Katie > genetics > Flashcards

genetics Flashcards

1
Q

Which of the following is not a characteristic of model organisms

a. short generation time
b. ability to be reared in a laboratory with controlled genetic crosses
c. availability of numerous genetic variants
d. an accumulated body of knowledge about their genetic systems
e. all of the above

A

e. all of the above

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2
Q

Who developed the principles of heredity?

A

Gregory Mendel

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3
Q

Which scientist came up with chromsomes?

A

Flemming

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4
Q

Name the director of the NIH that oversees the work of the largest supporter of biomedical research in the world, spanning the spectrum from basic to clinical research

A

Francis Collins

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5
Q

What is a distinct sequence of nucleotides forming part of a chromosome, a unit of heredity that is transferred from a parent to offspring

A

Gene

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6
Q

one of two or more alternative forms of a gene that arise by mutation and are found at the same place on a chromsome

A

allele

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7
Q

a threadlike structure of nucleic acids and protein found in the nucleus of most living cells, carrying genetic information in the form of genes

A

chromosome

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8
Q

an organism’s complete set of DNA, including all of its genes. It contains all of the information needed to build and maintain that organism

A

Genome

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9
Q

inheritance in a multicellular organism only takes place by means of the germ cells: the gametes, such as egg cells and sperm cells

A

Germplasm theory

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10
Q

the production of haploid gametes

A

Meiosis

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11
Q

the fusion of haploid gametes

A

fertilization

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12
Q

what is the consequence of meiosis

A

genetic variation

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13
Q

Who used an experimental approach and analyzed results mathematically to study easily differentiated characteristics

A

Gregor Mendel

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14
Q

What is the likelihood of a particular event used in genetics to predict the outcome of a genetic cross

A

Probability

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15
Q

inactivation of 1 X chromosomes to compensate for different X dosage between the sexes is a result of what?

A

dosage compensation

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16
Q

what is another name for an inactivated X chromosome?

A

Barr body

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17
Q

Who suggested that dosage compensation in mammals is by inactivation of all but one X? What is the hypothesis called?

A

Mary Lyon

Lyon hypothesis

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18
Q

What is a condition in which cells within the same person have a different genetic makeup

A

Mosaicism

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19
Q

dariIf two or more are present, what is randomly turned on and coats 1 of the X chromosomes with its RNA product to cause the condensation and permanent inactivation that is undone during meiosis?

A

Xist (Xi specific transcript)

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20
Q

What are two examples of incompletely dominant traits?

A

Codominance
and
incomplete dominance

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21
Q

What is a type of incompletely dominant trait that means that both alleles are equally expressed in a heterozygote?

A

Codominance

ex. sickle cell anemia

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22
Q

What is a type of incompletely dominant trait that is exhibited when the heterozygote doesn’t show the dominant trait but shows an intermediate phenotype, representing a blending of traits.

A

incomplete dominance

ex. curly, waxy or straight hair

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23
Q

the % of individuals having a particular genotype that express the expected phenotype.

A

penetrance

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24
Q

what is the term for the degree to which a character is expressed

A

expressivity

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25
Q

When everyone who inherits the disease causing alleles has some symptoms

A

complete penetrance

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26
Q

some individuals do not express the phenotype even through they inherit the alleles

A

incomplete penetrance

ex. polydactylyl

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27
Q

when symptoms vary in intensity in different people

for example, two extra digits versus three extra digits in polydactylyl

A

variable expression

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28
Q

What is the standard phenotypic ratio of a standard dihybrid cross

A

9:3:3:1 if the genes segregate independently and do not interact with each other

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29
Q

One gene can affect multiple traits

A

Pleiotropy. Ex. CF caused by mutation in CTFR gene that affects lungs, pancreas, liver, and intestine

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30
Q

Heterozygous phenotype same as that of homozygous dominant

A

Complete dominance of one allele

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31
Q

Heterozygous phenotype intermediate between the two homozygous phenotype so

A

Incomplete dominance of either allele

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32
Q

Heterozygotes: both phenotypes expressed

A

Codominance

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33
Q

In the whole population, some genes have more than two alleles

A

Multiple alleles

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34
Q

a disease gets worse as the defect is passed through generations until it reaches full impairment and that is the point where the trait is no longer passed

A

Anticipation

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35
Q

What are some special features of human biology that hinder genetics research?

A

Controlled mating is not possible
Long generation time
Small family size

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36
Q

A document used by genealogists in study of human family history. Red squares exhibit the phenotype. Instrumental in identifying key disease genes by seeing how they are transferred from one generation to the next

A

Pedigree chart

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37
Q

Usually appears in both sexes with equal frequency
Tends to skip generations
Affected offspring are usually born to unaffected parents
When both parents are heterozygous, approximately one-forth of the offspring will be affected
Appears more frequently among the children of costa guide marriages

A

Autosomal recessive trait

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38
Q

Usually appears in both sexes with equal frequency
Both sexes transmit the taint to their offspring
Does not skip generations
Affected offspring must have an affected pant unless they possess a new mutation
When one parent is affected (heterozygous) and the other parent is unaffected approx. half of the offspring will be affected
Unaffected parents do not transmit the trait

A

Autosomal dominant trait

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39
Q

Usually more males than females affected
Affected sons are usually born to unaffected mothers thus the trait skips generations
Approx. half of a carrier mothers sons are affected
Never passed from father to son
All daughters of affected fathers are carriers

A

X linked recessive

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40
Q

Both males and females are usually affected, often more females Than males are affected
Does not skip generations, affected sons must have an affected mother, affected daughters must have either an affected mother or an affected father
Affected fathers will pass the trait on to all daughters
Affected mothers (if heterozygous) will pass the trait on to half of their sons and half their daughters

A

X linked dominant

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41
Q

Only males are affected
Passed from father to all sons
Does not skip generations

A

Y linked trait

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42
Q

means the presence of the same trait in both members of a pair of twins. however, the trait may not be exactly the same phenotypically due to differences in penetrance or other factors

A

concordance

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43
Q

twins that have exactly the same genetic sequence

A

monozygotic (identical) twins

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44
Q

have the same genetic similarity as brothers or sisters born from different pregnancies

A

fraternal (dizygotic) twins

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45
Q

act that it’s illegal to discriminate employees or applicants because of genetic information

  • prohibits the use of genetic info in making employment decisions
  • does not say anything about health insurance
A

GINA: Genetic information nondiscrimination act

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46
Q

how do you calculate recombination frequency?

A

= # recombinant progeny / total # of progeny x 100%

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47
Q

when wild-type alleles are found on one chromosome ; mutant alleles are found on the other chromosomes

A

coupling and repulsion configuration of linked genes

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48
Q

when the position of the centromere on the chromosome is in the middle

A

metacentric

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49
Q

when the position of the centromere on the chromosome is just below the middle

A

submetacentric

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50
Q

when the position of the centromere on the chromosome is near the end

A

acrocentric

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51
Q

when the position of the centromere on the chromosome is at the end

A

telocentric

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52
Q

an increase of decrease in the number of individual chromosomes

A

aneuploidy

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53
Q

change in chromosome strucutre

A

chromosomes rearrangement

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54
Q

duplication of a chromosome segment

A

chromosome duplication

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55
Q

deletion of a chromosome segment

A

chromosome deletion

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56
Q

chromosome segments inverted 180 degrees

A

inversion

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57
Q

inversion that does not include the centromere in the inverted region

A

paracentric inversion

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58
Q

inversion that includes the centromere in the inverted region

A

pericentric inversion

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59
Q

movement of a chromosome segment to a nonhomologous chromosomes or to another region of the same chromosome without reciprocal exchange

A

nonreciprocal translocation

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60
Q

movement of a chromosome segment to a nonhomologous chromosomes or to another region of the same chromosome

A

translocation

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61
Q

exchange between segments of nonhomologous chromosomes or between regions of the same chromosome

A

reciprocal translocation

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62
Q

nullisomy

A

loss of both members of a homologous pair

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63
Q

loss of one member of a homologous pair

A

monosomy

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64
Q

gain of one chromosome, resulting in three homologous chromosomes

A

trisomy

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65
Q

gain of two homologous chromosomes, resulting in four homologous chromosomes

A

tetrasomy

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66
Q

addition of entire chromosome sets

A

polyploidy

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67
Q

polyploidy in which extra chromosome sets are derived from the same species

A

autopolyploidy

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68
Q

polyploidy in which extra chromosomes set are derived from two or more species

A

allopolyploidy

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69
Q

what is associated with shorter life span and increased incidence of disease?

A

shortened telomeres

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70
Q

what helps to compartmentalize the genome into domains of different transcriptional potentials?

A

DNA methylation and histone modification

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71
Q

name for loosely packed DNA

A

euchromatin

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72
Q

name for tightly packed DNA that is transcriped last

A

heterochromatin

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73
Q

a heritable alteration of phenotype because of altered chromatin modification of DNA (methylation) without changing the DNA sequence

A

epigenetics

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74
Q

mutations that arise in tissues other than those that produce gametes
impact is restricted to the individual

A

somatic mutations

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75
Q

mutation that arise in tissues that produce gametes

and can be passed to offspring

A

germline mutations

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76
Q

mutation changes the codon sequence but not the amino acid

A

silent mutation

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77
Q

missense mutation that alters the amino acid sequence but does not change the functions of the protein

A

neutral mutation

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78
Q

causes the complete or partial absence of a normal protein function and is usually recessive

A

loss of function mutation

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79
Q

mutation that changes the base of a single DNA nucleotide

A

base substitution

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80
Q

mutation that is the addition of one or more nucleotides

A

insertion

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81
Q

mutation that is the deletion of one or more nucleotides

A

deletion

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82
Q

mutation that is an insertion or deletion that alters the reading frame of a gene

A

frameshift mutation

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83
Q

mutation that is a deletion or insertion of a multiple of three nucleotides that does not alter the reading frame

A

in-frame deletion or insertion

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84
Q

mutation that is repeated sequence of a set of nucleotiddes in which the number of copies of the sequence increases

A

expanding nucleotide repeats

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85
Q

changes a sense codon into a different sense codon, resulting in the incorporation of a different amino acid in the protein

A

missense mutation

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86
Q

changes a sense codon into a nonsense (stop) codon causing premature termination of translation

A

nonsense mutation

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87
Q

changes a sense codon into a synonymous codon, leaving unchanged the amino acid sequence of the protein

A

silent mutation

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88
Q

changes in the amino acid sequence of a protein without altering its ability to function

A

neutral mutation

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89
Q

causes a complete or partial loss of function

A

loss-of-function mutation

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90
Q

causes the appearance of a new trait or function or causes the appearance of a trait in inappropriate tissue or at an inappropriate time

A

gain-of-function mutation

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91
Q

causes premature death

A

lethal mutation

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92
Q

(x-rays, ect) dislodges electrons in tissue causing free radicals which often damages DNA

A

ionizing radiation

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93
Q

what does UV light induce?

A

the formation of pyrimidine dimer: two thymine bases that block replication

94
Q

What does the SOS system in bacteria

A

SOS system allows bacteria cells to bypass the replication block with a mutation-prone pathway

95
Q

what test is used to detect mutagens? It;s done by bacteria that can not synthesize Histidine, are exposed to a potential mutagen and placed on Histidine-free media. The number of resulting colonies reflects the mutagenicity of the substance

A

Ames Test

96
Q

What repair system fixes replication errors, including mispaired bases and strand slippage

A

mismatch repair

97
Q

What repair system fixes pyrimidine dimes; other specific types of alterations

A

direct repair

98
Q

What repair system fixes abnormal bases, modified bases, and pyrimidine dimers

A

base excision repair

99
Q

What repair system fixes DNA damage that distorts the double helix, including abnormal bases, modified bases, and pyrimidine dimers

A

nucleotide excision repair

100
Q

What repair systems fix double-strand breaks

A

homologous recombination and nonhomologous end joining

101
Q

What are two groups of eukaryotic transposons?

A

those structurally similar to transposable elements found in bacteria (typically end in short inverted repeats) and retro transposons (similar to retroviruses

102
Q

constitute about 11% of the human genomes and include Alu

A

SINEs (short interspersed nuclear elements

103
Q

approx. 900,000 copies of in the humans genome and constitute about 21% of the total human DNA

A

LINEs

104
Q

the first known active human L1 elements was the result of its retrotransposition into what factor that caused a de novo case of hemophilia?

A

factor VIII

105
Q

technology for locating, isolating, altering, and studying DNA segments
miniturization and vastly increased computational capacity

A

recombinant DNA technology (genetic engineering)

106
Q

the use of techniques for locating, isolating, altering, and studying DNA segments to develop new products

A

biotechnology

107
Q

mice carrying the gene are bred to produce a strain of mice homozygous for the foreign gene

A

knock-in transgenic mice

108
Q

variegated mice are crossed with white mice and the progeny interbred to produce some mice that are homozygous for the disabled gene

A

knock-out transgenic mice

109
Q

a mouse carrying functioning human genes, cells, tissues, and/or organs. commonly used as models in biological and medical reserch

A

humanized mouse

110
Q

an organism permanently altered by the addition of a DNA sequence to its genome

A

transgenic animals

111
Q

when a gene from one organism is introduced to another type of species

A

transgene

112
Q

organization and sequence of genetic information contained within a genome

A

structural genetics

113
Q

linkage maps approximate locations of genes, relative to the location of other genes, based on the rates of recombination

A

genetic maps

114
Q

What are the limitations of genetic maps?

A

low resolution or detail

and do not correspond to physical distances between genes

115
Q

a map of a chromosome that shows the actual location of the genes. it has greater resolution and accurancy

A

physical map

116
Q

varitions in number of copies of large DNA sequences (greater than 1000 bp) that may include deletions or duplications
- most conatins multiple genes and potentiall affect the phenotype

A

CNVs or copy number variables

117
Q

sequencing genomes of entire communities of organisms

ex. flora of the human gut

A

metagenomics

118
Q

novel organisms created by stitching together functional genomic sequences

A

synthetic biology

119
Q

genes that are evolutionarily related

A

homologous

120
Q

homologous genes in different species that evolved from the same gene in a common ancestor

A

orthologs

- different species same function

121
Q

homologous genes arising by duplication of a single gene in the same organism

A

paralogs

- same species different function

122
Q

the whole set of molecular interactions in a particular cell. specifically refers to physical interactions among molecules (such as those among proteins, also known as protein-protein interactions) but also describe sets of indirect interactions among genes

A

interactome

123
Q

a nucleotide sequence within a gene that is removed by RNA splicing during maturation of the final RNA product

A

intron

124
Q

a part of a gene that will become a part of the final mature RNA produced by that gene after introns have been removed by RNA splicing

A

exon

125
Q

what does a gene include?

A
  • DNA sequence that code for all exons and introns
  • sequences at the beginning and end of the RNA that are not translated into a protein, the transcription unit consists of the promotor, transcribed RNA sequence (coding and noncoding) and the terminator
126
Q

a ribosomal binding site in prokaryotic messenger RNA, generally located around 8 bases upstream of the start codon AUG. The six-base consensus sequence os AGGAGG

A

Shine-Dalgarno Sequence

in E. coli the sequence is AGGAGGU

127
Q

what are the 3 primary regions of mature mRNA

A

5’ untranslated region
the proteins-coding region
3’ untranslated region

128
Q

what type of splicing occurs in every category of cancer hallmarks?

A

alternative splicing

129
Q

What type of splicing regulate angiogenesis in tumor cells?

A

VEGF alternative spicing

130
Q 
a class of dsRNA molecules, 20-25 bp in length discovered in 1999. 
play lots of role that are most notable in the RNA interference (RNAi) pathway, where they interfere with the expression of specific genes with complementary nucleotide sequence. 
- functions by causing mRNA to be broken down after transcription, resulting in no translation
A

small interfering RNA (siRNA)

131
Q

a small non0coding RNA molecule (about 22 nucleotides) found in plants, animals, and some viruses, that functions in RNA silencing and post- transcriptional regulation of gene expression.

A

microRNA (miRNA)

132
Q

Beadle and Tatum in 1941 came up with this hypothesis saying that genes function by encoding enzymes , and each gene encodes a separate enzyme

A

one gene, one enzyme hypothesis

133
Q

amino acid may be specified by more than one codon

A

degenerate code

134
Q

codons that specify the same amino acid

A

synonymous codons

135
Q

different tRNAs that accept the same amino acid but have different anticodons

A

isoaccepting tRNAS

136
Q

codons encoding amino acids

A

sense codon

137
Q

initiation codon

A

AUG methionine

138
Q

termination codon

A

UAA , UAG, UGA

do not code for a specific amino acid

139
Q

what are the steps for protein synthesis in bacterial cells

A

tRNA charging
initiation
elongation
termination

140
Q

deals with phenotypes that vary continuously (in characters such as height or mass) as opposed to discretely identifiable phenotypes and gene-products (such as eye color , or the presence of a particular biochemical

A

quantitative genetics

141
Q

what type of characteristics may produce a range of possible phenotypes therefor it may be impossible to decipher what genotype they have

A

quantitative characteristic

142
Q

what type of characteristic display only 2 possible phenotypes- either present or absent

A

Threshold characteristic

143
Q

_____ provide information about the variability of a group of phenotypes the greater the characteristic the more spread out the distributaiton is about the mean

A

variance

144
Q

when two characteristics are correlated, a change in one characteristic is likely to be associated with a change in the other

A

correlation

!!! correlation doesn’t not demonstrate cause-and-effect relation. simple means that a change in a variable is associated with a proportional change in the other variable !!!

145
Q

a statistical measure of the strength of the association

A

correlation coefficient

146
Q

what represents the change in y per unit change in x

A

regression coefficient

147
Q

a section of DNA that correlates with variation in a phenotype (the quantitative trait) it’s typically linked to or contains the genes that control that phenotype. this is often an early step in identifying and sequencing the actual genes that cause the trait variation

A

Quantitative trait locus

148
Q

arises through the differential reproduction of individuals with different genotypes

A

natural selection

149
Q

selection by promoting the reproduction of organisms with traits perceived as desirable

A

artificial selection

150
Q

response to genetic variable traits may level off after many generations

A

limits to selection response

151
Q

what are two types of correlated responses

A

phenotypic correlation (larger size and larger/more offspring)

and

genetic correlation (pleitropy, 1 gene affecting more than one characteristic, genes that regulate growth hormone impact the size of multiple structures

152
Q

what are examples of important environmental influence that have an effect on important chronic conditions>

A

diet
obesity
lifestyle
trauma

153
Q

what is the current trend for mapping/GWAS use for allele identification?

A

SNPs

- most frequently seen type of polymorphism

154
Q

whar are the 5 concepts of heritability

A
  1. portion of phenotypic variance due to genetic variance; it does not indicate to what extent the phenotype itself is determine by genotype
  2. applies to populations and NOT to individuals
  3. determined for a particular population in a particular environment at a particular time. determined for one population does not apply to other populations, or even the same population facing different environmental conditions at a different period
  4. a trait with high heritability may still be strongly influenced by environmental factors
  5. high heritability does not mean that differences between populations are due to difference in genotype
155
Q

what are the assumptions of hardy-weinberg law?

A

population is large
randomly mating
not affected by mutation , migration, or natural selection

156
Q

what are the two predictions of hardy-weinberg?

A

the allelic frequencies of a population do not change

and
the genotypic frequencies stabilize

157
Q

a groups of interbreeding, sexually reproducing individuals with a common set of genes

A

population

158
Q

a change in gene frequency over time

A

evolution

159
Q

What causes genetic variation?

A
  • variation in alleles - sequence variation
  • caused by mutation
  • frequencies affected by evolutionary forces
160
Q

of individuals with the genotype / total # of individuals

A

frequency of a genotype

161
Q

tendency of like individuals to mate

A

positive assortative mating

162
Q

a tendency of unlike individuals to mate

A

negative assortative mating

163
Q

a measure of the probability that two alleles are identical by descent

A

inbreeding

164
Q

what is inbreeding depression?

A
  • increased appearance of lethal and deleterious traits with inbreeding
  • inbreeding increases the percentage of homozygous individuals in the population
165
Q

is the avoidance of mating between related individuals

A

outcrossing

166
Q

what are the forces of evolution

A 
nonrandom mating 
mutation 
migration 
genetic drift 
natural selection
167
Q

fitness and the selection coefficient

  • the general election model
  • the results of selection
  • -directional selection
  • -overdominance vs. underdominance
  • change in allele frequency of a recessive allele due to this
A

natural selection

168
Q

is the relative reproductive success of a genotype compared to other genotypes in the population
ranges from 0 to 1

A

fitness

to calc: take avg # of offspring produced by genotype and divide it by the mean number of offspring produced by the most prolific genotype

169
Q

is the relative intensity of selection against a genotype

equals 1 - the fitness for a particular genotype

A

selection coefficient

170
Q

a type of selection in which one allele or trait is favored over another

A

directional selection

171
Q

both alleles are favored in the heterozygote and neither allele is eliminated from the population

A

overdominance ( heterozygote advantage)

172
Q

the heterozygote has a lower fitness than both homozygotes

this leas to an unstable equilibrium

A

underdominance

173
Q

what evolutionary forces have effects on allelic frequencies within populations?

A
  • mutation- equilibrium between forward and reverse mutations
  • migration = equilibrium reached when allelic frequencies of source and recipient population are equal
  • genetic drift = fixation of one allele
  • natural selection = directional selection; fixation of one allele; overdominant selection: equilibrium reached
174
Q

how an embryo develops

A

epigenesis

175
Q

the study of genes and heredity

A

genetics

176
Q

heritable changed that do not involve changes in the DNA

A

epigenetics

177
Q

hypothesis assumes that when environmental condition are poor for the parent, they are likely also to be poor for the offspring. Therefore, when the parent experience food shortage, biochemical modifications allow pre-adaptation to produce offspring that are metabolically thrifty, eating as much as possible, minimizing energy expenditure, and hoarding/conserving calories

A

Thrifty phenotype hypothesis

178
Q

what are some molecular mechanisms that alter chromatin structure?

A
  • changes in patterns of DNA methylation
  • chemical modification of histone proteins
  • RNA molecules that affect chromatin structure and gene expression
179
Q

addition of methyl groups to nucleotides

generally deactivating

A

DNA methylation

180
Q

histone modification that are associated with gene activity

A

acetylated histones

181
Q

life experiences, especially early in life, have long-lasting effects on behavior

A

behavioral epigenetics

182
Q

epigeneic phenomenon by which certain genes are expressed in a parent-of-origin-specific manner

A

genomic imprinting

183
Q

when both copies of an allele are inherited from the same parent

A

uniparental disomy

184
Q

ability of a single cell to divide and produce all of the differentiated cells in an organism

A

totipotent cell

185
Q

a cell becomes committed to a particular cell fate

A

determination

186
Q

stems cells can become any tissue in the body except a placenta

A

pluripotent

187
Q

where so embryonic stem cells originate?

A

an inner mass cells within a blastocyst

188
Q

determination is the dorsal-ventral axis is determined by what gene

A

dorsal gene

189
Q

what genes determine the anterior-posterior axis

A

bicoid gene, nanos gene, hunchback gene

190
Q

what type of genes determine the type of segment structures on a segment

A

hox genes

191
Q

controlled, programmed cell death

A

apoptosis

192
Q

injured cells dying in an uncontrolled manner

A

necrosis

193
Q

molecules that elicit an immune reaction

A

antigen

194
Q

proteins that binds to antigens and mark them for destruction by phagocytic cells

A

antibody

195
Q

the production of antibodies by B cells

A

humoral immunity

196
Q

immunity that depends on T cells

A

cellular immunity

197
Q

how is an immune response to a specific antigen produced?

A

clonal selection

198
Q

what comprises an immunoglobulin molecule

A

4 polypeptide chains
- two light chains
- two heavy chains
that combine to form a Y-shaped structure

199
Q

what generates antibody diversity

A

somatic recombination

200
Q

how are T cells activated?

A

by binding to both a foreign antigen and to a histocompatibility antigen on the surface of a self-cell

201
Q

hypothesis pproposed by Strachan to explain the increased prevalence of hay fever and eczema in families with small size, and higher standards of cleanliness. regarding the rural lifestyle,several studies have shown an inverse association between growing up on a farm and atopic diseases

A

the hygiene hypothesis

202
Q

screens for inborn errors of metabolism are currently done with tandem mass spec based tests that focus on more than a dozen amino acids and 28 acylcarnitines associated with fatty acid disorders

A

Newbie seq

203
Q

severe immunodeficiency disease with defects in T and B cell function

A

severe combined immunodeficiency (SCID)

204
Q

tumor that remain localized

A

benign tumor

205
Q

tumor cells invade other tissues

A

malignant tumor

206
Q

tumor cells induce secondary tumors

A

metastasis

207
Q

what is some genetic evidence for cancer

A

carcinogens
chromosomal abnormalities
inheritance

208
Q

what does knudson’s multistep model of cancer require?

A

several mutations

-2 hit hypothesis

209
Q

tumor cells acquire more mutations that allow them to become increasingly more aggressive in their proliferative properties

A

clonal evolution of tumors

210
Q

mutates, dominant-acting stimulatory genes that cause cancer

A

oncogenes

211
Q

responsible for basic cellular functions in normal cells; when mutated, they become oncogenes

A

proto-oncogenes

212
Q

mutates recessive- acting inhibitory genes that are inactive
- loss of heterozygosity

A

tumor-suppressor genes

213
Q

what is the key event in Cancer that leads to mutation that activate all of the secondary hallmark events?

A

genomic instability

214
Q

what is probably the initiating event in hereditary cancers?

A

genomic instability

215
Q

what is the initiating event in sporadic cancers

A

deregulation of growth-regulating genes which leads to DNA damage and DNA replication stress which in turn lead to genomic instability

216
Q

what regulates the progression through the G2/M checkpoint ?

A

cyclin B

217
Q

what is the hallmark of follicular lymphoma

A

translocation between chromosome 14 and 18 that leads to deregulation of BCL2 expression in tumor cells

218
Q

what causes cancer by mutating and rearranging proto-oncogenes or by inserting promoters near proto-oncogenes?

A

Retroviruses

219
Q

these target cancer cell-specific antigens and induce an immunological response against the target cancer cell

A

monoclonal antibodies

- a toxin, radioisotope, cytokine or other active conjugate can be coupled to the antibody as well

220
Q

what is an example of a chimeric monoclonal antibody against the protein CD20 and is therefore used to treat diseases which are characterized by excessive numbers of B cells, overactive B cells, or dysfunctional B cells

A

Rituximab

221
Q

an interdisciplinary field that develops methods for understanding complex biological data. Combines computer science, statistics, mathematics, and engineering to study and process biological data

A

bioinformatics

222
Q

the study, invention, and implementation of structures and algorithms to improve communication, understanding and management of medical information

A

biomedical informatics

223
Q

a continuously updates catalog of human genes and genetic disorders and traits, with a particular focus on the gene-phenotype relationship

A

OMIM ( online mendelian inheritance in man)

224
Q

launched by the national cancer institute and the NHGRI to comprehensively characterize the genomic and molecular features of ovarian cancer and glioblastoma multiforme. the project grew to include 11,000 patients, across 33 tumor types and is the largest tumor collection ever to be analyzed

A

The Cancer Genome Atlas

225
Q

the world’s largest and most comprehensive resource for exploring the impact of somatic muations in human cancers

A

COSMIC

the catalogue of somatic mutation in Cancer

226
Q

site contains the reference sequence and working draft assemblies for a large collection of genomes. also provides portals to ENCODE data at UCSC and the the Neanderthal project

A

UCSC genome browser on Human assembly

227
Q

NIH project to carry out a project to identify all functional elements in the human genome sequence

A

ENCODE project

ENCyclopedia of DNA Elements

228
Q

a public functional genomics database of array and sequence-based expression profiles

A

Gene Expression Omnibus

229
Q

concerned with the sequencing and analysis of the genome of an individual

A

personal genomics

230
Q

the use of the information produced by personal genomics techniques when deciding what medical treatments are appropriate for a particular individual

A

predictive medicine

231
Q

focused on a new taxonomy of human disease based on molecular biology

A

precision medicine

COB 2016 comp -Katie (1 decks)

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