test 2 Flashcards

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1
Q

what is autosomal dominent

A

the allele for the trait is dominant and is carried on an autosome

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2
Q

what is autosomal recessive

A

the allele for the trait is recessive and is carried on an autosome

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3
Q

what is x linked recessive

A

the allele for the trait is recessive and is carried on the sexual chromosome x

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4
Q

what is x linked dominant

A

the allele for the trait is dominant and is carried on the sexual chromosome x

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5
Q

what is transcription and what do you get

A

the process of converting DNA to RNA

from a template strand from 3’ to 5’, you get a complementary strand from 5’ to 3’

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6
Q

what is translation and what do you get

A

translation is the process of converting RNA to a protein (comes after transcription)

from a complementary strand you get a protein of the form
N Met-Pro C

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7
Q

what are the letters changing to in transcription

A

A to U
C to G
G to C
T to A

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8
Q

what is the orientation of mRNA (messenger)

A

always 5’to3’

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9
Q

when translating mRNA what do you get

A

protein

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10
Q

what is a missence mutation

A

-type of base substitutions
-alters the identity of the amino acid
-effects the reactive site of enzymes (moderate effects)

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11
Q

what is a nonsense mutation

A

-type of base sub
-generates an early stop codon so protein is truncated
-has severe effects on protein function

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12
Q

silent mutation

A

-type of base sub
-generates no change because protein identical so does not have an effect

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13
Q

what are frameshift mutations

A

-insertions or deletions
-changes the reading frame
-the remainder of the protein after is changed
-a premature stop codon will end translation

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14
Q

what is a deletion in Large chromosomal rearrangement

A

-occurs if a broken segment is lost from a chromosome
-ex: deletion on human chromosome 5 normally leads to severe cognitive impairment and a malformed larynx (cris du chat)

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15
Q

what is a duplication

A

-type of large chromosomal rearrangements
-a segment is broken from one chromosome and added to its homologue
-in the receiving homologue the alleles of the inserted fragment are added to the ones already there
-may be good or bad depending on the genes and or alleles in the duplicated region
-ex: mammals have genes that encore several types of hemoglobin that are not present in vertebrates such as sharks that evolved earlier

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16
Q

what is a translocation

A

-type of lcr
-occurs when a segments of a chromosome breaks and attaches to another non-homologous chromosome
-ex: cancer burkitt lymphoma happens in humans when part of chromo 8 goes to the end of chromo 14

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17
Q

what is an inversion

A

-type of LCR
-part of a chromo breaks and reattaches on the other side
-ex 5 human chromo show signs oof inversions that our nearest relative the gorilla doesn’t have so is a big part of evolution

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18
Q

what are transcription factors

A

proteins that need to bind to DNA and regulate gene expression by promoting or suppressing transcription to recruit rna polymerase II

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19
Q

what is the difference in the mRNA of eukaryotes and prokaryotes

A

eukaryotes have pre-mRNA that needs to be transformed to go through translation

prokaryotes have their rna ready to go from transcription to translation

there are no transcriptionfactors in prokaryotes

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20
Q

what is epistasis

A

many genes that interact with each other where one or more alleles of one gene can mask the effect of other genes

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21
Q

what is incomplete dominance

A

both phenotypes show up to create a new one (pink flower from a red and a white)

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22
Q

what is codominance

A

both phenotypes are expressed

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23
Q

what is a lethal recessive allele

A

-phenotype for heterozygous individual is normal
-lethal for homozygous individual
f2 ratio 3:0

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24
Q

what are multiple alleles

A

small differences in the sequence of the DNA at one or more points of a gene

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25
Q

what is polygenic inheritance

A

traits that are conferred by multiple genes

26
Q

what is the SRY

A

the switch that directs development toward maleness at an early point in embryonic developpement

27
Q

the disease skips generations

A

probably recessive

28
Q

more men than women affected

A

probably x linked recessive

29
Q

more women that man affected

A

on autosome

30
Q

affected mother has an unaffected son in a recessive trait

A

rule out X linked

31
Q

when will an affected father always have affected daughter

A

x linked dom

32
Q

dna base pairs

A

adenine
thymine
guanine
cytosine

33
Q

rna base pairs

A

adenine
uracil
guanine
cytosine

34
Q

what is a codon

A

a section with three base pairs

35
Q

what does every protein start with

A

methionine

36
Q

what are the 3 stop codons

A

UAA
UAG
UGA

37
Q

what are chaperones

A

chaperones are protein complexes that fold the proteins

38
Q

what are the mRNA start codon

A

AUG

39
Q

what are the mRNA stop codons

A

UAA
UAG
UGA

40
Q

what’s the use of rRNA

A

rRNA form with proteins the ribosomes that translation happens in

41
Q

what’s the use of tRNA

A

tRNA is what brings the amino acids to their respective codons

it has on one side an amino acid and on the other the anticodon that pairs with the codon on the mRNA

42
Q

summarize transcription

A

1 initiation -transcription factors bind to the promoter on the TATA box and they recruit RNA polymerase.

2 elongation- dna is unwound and rna base pairs are added to the new mRNA strand in the 5’ to 3’ direction. behind the rna polymerase the DNA rewindsthe newly synthesized pre mRNA molecule is elongated by adding new bases to the RNA strand.

3 termination- the RNA polymerase is removed

43
Q

summarize translation

A

1 initiation- the ribosome scans the mRNA until it finds the start codon

2 elongation- tRNA brings the amino acid that is correct for the codon in the A site. The codon must fit the anticodon on the tRNA. each added amino acid start forming a polypeptide in the P site. The empty tRNA exists at the E site

44
Q

what are polysomes

A

They are a chain of ribosome so many ribosomes can translate a mRNA chain at the same time making it faster

45
Q

what is the transcription start codon

A

TAC

46
Q

what is an operon

A

A sequence of genes plus a promoter and an operator involved in the same metabolic pathway

unique to prokaryotes

47
Q

what is a catabolism reaction and which operon does it go with

A

It is the ensemble of reactions that lead to the degradation of molecules. Produces energy
Lac operon

48
Q

what is an anabolism reaction and which operon does it go with

A

It is the ensemble of reactions that lead to the construction of molecules. Consumes energy
Trp operon

49
Q

what is RNA polymerase I

A

a type of rna that transcribes DNA into rRNA

50
Q

what is RNA polymerase II

A

a type of rna that is an enzyme and transcribes protein coding genes

51
Q

what is RNA polymerase III

A

a type of rna that is an enzyme that transcribes DNA into tRNA and some parts of rRNA

52
Q

what happens in initiation of translation

A

the ribosomes scan the mRNA strand until it finds the start codon

53
Q

what happens in elongation of translation

A

the tRNA brings in the amino acid attached to it’s anti codon to match each codon of the mRNA. a polypeptide chain forms.

54
Q

lac operon induced or repressible and what type rxn

A

induced and catabolic

55
Q

trp operon induced or repressible and what type rxn

A

repressible and anabolic

56
Q

what happens to the lac operon when no lactose

A

the Lac repressor encoded by the LacI gene is active and binds to the operator so no transcription really occurs (basal level)

57
Q

what happens to the lac operon when lactose present

A

the lactose is converted to allocate which inactivates the repressor so it does not bind to the operator so transcription can occur

58
Q

what happens the trp operson when there is no trp

A

the repressor is inactive, so it is prevented from binding to the operator so transcription can happen

59
Q

what happens to the trp operon where trp is present

A

repressor gets activated by the tryptophan which allows him to bind to the operator blocking transcription

60
Q

what’s the difference between an snp and an lcr

A

an snp changes only one base pair of the chain whereas an lcr changes a whole part of chromosome

61
Q

what are activators

A

regulatory proteins that bind to the promoter proximal effects to stimulate or inhibit transcription