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1/2 BIO > 6.Genomes, genes and alleles & Genetics I + 2 > Flashcards

6.Genomes, genes and alleles & Genetics I + 2 Flashcards

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1
Q

RNA Polymerase function

A

RNA polymerase is an enzyme, RNA polymerase binds to the promoter region, which is located directly upstream of the gene.

definition: An enzyme that is responsible for producing a transcript (pre-mRNA) of a gene by joining free RNA nucleotides via complementary base pairing.

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2
Q

upstream vs down stream of the gene

A

upstream-towards the 5’ end of the coding strand
downstream-towards the 3’ end of coding strand

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3
Q

genome

A

all the genetic information (DNA) in an individual (organism) or cell

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4
Q

in which direction does RNA Polymerase move

A

3’ to 5’

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5
Q

start and end product of transcription

A

start-DNA
end-mRNA

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6
Q

Function of 5’ methyl cap

A

-5’ methyl cap is added to protect the mRNA from enzyme degradation (enzymes breaking down the code)
-it also helps the ribosome bind to mRNA to begin translation

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7
Q

what is the 3’ poly-A-tail

A

addition of multiple adenine nucleotides to 3’ end of mRNA

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8
Q

Function of 3’ Poly-A-tail

A

-protects the mRNA from enzyme degradation (prevents enzyme breaking it down)
-also makes the molecule more stable
-allows mRNA to leave the nucleus

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9
Q

Splicing

A

process by which the introns are removed

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10
Q

introns vs exons

A

introns are sections of DNA that do not directly code for proteins whereas exons are sections of DNA that are able to code for proteins.

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11
Q

start and end product of RNA processing

A

start-pre mRNA
end- (mature) mRNA

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12
Q

start and end product of translation

A

start-mRNA
end-polypeptide

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13
Q

name of 3 nucleotide bases in mRNA

A

codon

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14
Q

name of 3 nucleotide bases in tRNA

A

anticodon

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15
Q

how many possible mRNA codons

A

64

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16
Q

how many possible tRNA codons

A

61

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17
Q

site of translation

A

in the cytosol at ribosomes

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18
Q

where are intracellular protein synthesised

A

at free floating ribosomes

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19
Q

where are extracellular proteins synthesised

A

proteins for secretion (extracellular function) are synthesised at the rough endoplasmic reticulum (on ribosomes)

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20
Q

tRNA function

A

carries a group of three RNA nucleotides called an anticodon which is specific and complementary to a particular mRNA codon.

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21
Q

what is meant by the ‘degenerate code’

A

multiple codons can code for the same amino acid, one amino acid may be encoded for by multiple different codons

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22
Q

stop codon function

A

-does not code for an amino acid
-has no associated tRNA therefore causes mRNA to be released from the ribosome and the ribosome to disassociate

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23
Q

Post translational modification

A

-polypeptides can be modified by having other groups (eg carbohydrate chains) added to them. This will change the way the protein is folded
-occurs at rough endoplasmic reticulum (for export) or at a chaperone protein (for use in cell)

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24
Q

define mutation

A

random changes in genetic code, leading to new alleles
-can occur through mutagens eg UV light or chemicals in cigarette smoke

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25
Q

point mutation

A

point mutation-where one base is changed in the DNA code

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26
Q

identify the types of point mutations

A

substitution
insertion
deletion
duplication

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27
Q

substitution (point mutation)

A

base change

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28
Q

insertion (point mutation)

A

base added

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29
Q

deletion (point mutation)

A

base removed

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30
Q

duplication (point mutation)

A

base repeated (same base added)

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31
Q

what does ‘transcribe’ suggest

A

-we are given the template strand
-hence must make use complementary base pairing

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32
Q

what is the start codon for DNA

A

ATG-hence given the coding strand

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33
Q

what is done when given the coding strand

A

replace ‘T’ with ‘U”

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34
Q

silent mutation

A

change in single nucleotide base codes for the same amino acid(the code is redundant)

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35
Q

missense mutation

A

change in single nucleotide base codes for another (different) amino acid

36
Q

nonsense mutation

A

change in single nucleotide base codes for a STOP codon

37
Q

what is meant by ‘frameshift’

A

mutation leads to a change in not just one amino acid but the sequence of amino acids from that point onwards (as the code is read in groups of three)

38
Q

Sickle cell

A

Sickle cell anaemia Is caused by a point mutation in the beta goblin chain of haemoglobin. Glutamic amino acid is therefore replaced by valine.

39
Q

how to identify the 5’ end

A

end of DNA attached to phosphate group to 5th carbon

40
Q

purpose of alternate splicing

A

alternate splicing allows for cells to produce many different versions of a protein using a single gene.

41
Q

define a gene

A

-a hereditary unit
-it occupies a specific location on a chromosome
-it determines the characteristic(s) of an organism by directing the formation of a protein (s)

42
Q

what is Gregor Mendel’s law of inheritance

A

genes are inherited to the offspring from each parent

43
Q

define alelle

A

variation of a gene at a particular gene locus

44
Q

define genotype

A

the allele combination of an individual
-eg Bb

45
Q

what is meant by homozygous

A

two of the same alleles for a gene at specific gene locus
eg BB or bb

46
Q

what is meant by heterozygous

A

two different alleles for a gene at a specific gene locus
eg Bb

47
Q

another name for homozygous

A

pure breeding

48
Q

another name for heterozygous

A

hybrid

49
Q

what is a dominant trait

A

allele will be expressed in a heterozygous genotype

50
Q

what is a recessive trait

A

only expressed in the phenotype when the genotype is homozygous

51
Q

define phenotype

A

the physical, behavioural or physiological characteristics of an organism which are a result of the combination of the genotype and environment

52
Q

what are epigenetics

A

the study of how your behaviour and environment can cause changes that affect the way your genes work

53
Q

what is a test cross

A

To figure out an unknown genotype, a test cross is carried out between an individual that expresses the recessive trait (homozygous recessive trait) and the unknown genotype.( complete two crosses to show the potential options)

54
Q

what is meant by co-dominance

A

where both alleles are equally expressed in the phenotype
eg blood type AB

55
Q

define discontinuous variation(+extra info)

A

Variation in a population where phenotypes fall into discrete groups

-involves one gene(monogenetic inheritance)
-represented as a bar chart

56
Q

define continuous variation(+extra info)

A

Variation in a population where phenotypes fall across a range between two extremes

-controlled by multiple genes(polygenetic inheritance)
- scale of traits=continuum
-represented as a histogram

57
Q

define genetics

A

genetics is the study of inheritance

58
Q

genetic diagram criteria

A

-allele key
-parents: phenotype, genotype, gametes(circled)
-punnett square
-f1: phenotypes(with percentages), genotypes(with percentages), phenotypic ratio(with percentages)

59
Q

blood types alleles

A

I^A, I^B, i

60
Q

what is sex linked inheritance

A

-This is when alleles are present on the sex chromosomes

61
Q

polygenic inheritance

A

-there is no complete dominance; however, there is incomplete dominance (phenotypes in offspring is a mixture of parents phenotypes)
-each gene roughly has an equal influence and alleles have an additive affect on the phenotype outcome
-inherited traits that are controlled by two or more genes

62
Q

melanin production

A

the protein pigment melanin responsible for skin colour
-at least 3 genes which control for human skin colour

63
Q

what is height controlled by

A

Height is controlled by many genes (>400) as well as the environment (eg. diet) so is considered a multifactorial trait, not just a polygenic trait.

64
Q

gene regulation

A

The process by which cells can either turn on or off gene expression.

65
Q

gene expression

A

The process by which functional products, such as proteins, are produced through two stages: Transcription and Translation.

66
Q

What are independent genes

A

genes found on different chromosomes

67
Q

What are linked genes

A

genes that are found on the same chromosome and alleles therefore inherited together (unless crossing over occurs)

68
Q

What are parental gametes

A

gametes containing chromosomes unchanged from the parent

69
Q

what are recombinant gametes

A

gametes made as a result of crossing over containing allele/chromosome combinations not found in the parent

70
Q

how can you determine if genes are linked

A

-test cross, crossing an individual who is heterozygous at both gene loci with a homozygous recessive individual at both gene loci
-if genes are linked it would produce a 1:1 phenotypic ratio or many:many:few:few phenotypic ratio

71
Q

what is the phenotypic ratio produced when two linked genes undergo crossing over

A

many:many:few:few

-many parent gametes and few recombinant gametes

72
Q

what is the phenotypic ratio when two linked genes don’t undergo crossing over

A

1:1

73
Q

what is the phenotypic ratio when two heterozygous are crossed (monohybrid cross)

A

3 dominant : 1 recessive

74
Q

what is the unknown phenotype if a test cross produces 100% of the dominant trait (monohybrid cross)

A

homozygous dominant
eg AA x aa

75
Q

what is the unknown phenotype if a test cross produces a 1 to 1 ratio (monohybrid cross)

A

heterozygous dominant
eg Aa x aa

76
Q

what is the unknown genotype if a test cross produces 100% dominant (Independent-dihybrid cross)

A

homozygous dominant at both gene loci

eg AABB x aabb

77
Q

what is the unknown phenotype if a test cross produces 1:1:1:1 ratio (Independent-dihybrid cross)

A

heterozygous dominant at both gene loci
eg AaBb x aabb

78
Q

what makes the mode of inheritance recessive

A

an effected individual (that expresses the trait) has two unaffected parents

79
Q

what makes the mode of inherence likely dominant

A

all effected individuals have an affected parent

80
Q

what makes the mode of inheritance dominant

A

-all effected individuals have an affected parent
-two affected parents have an unaffected child

81
Q

what makes the mode of inheritance x linked recessive

A

-an affected individual has two unaffected parents
-an affected mother passes the trait on to all sons

82
Q

what makes the mode of inheritance autosomal recessive

A

-an effected individual has two unaffected parents
-an affected mother does not pass on the trait to ALL sons

83
Q

what makes the mode of inheritance x linked dominant

A

-every affected individual has an affected parent
-two affected parents have an unaffected child or all affected individuals have an affected parent
-affected father passes trait on to ALL daughters

84
Q

what makes the mode of inheritance autosomal dominant

A

-every affected individual has an affected parent
-two affected parents have an unaffected child
-affected father does NOT pass trait on to ALL daughters

85
Q

can females express Y linked traits

A

no, only males (XY) can
-females don’t carry a Y chromosome

86
Q

why are sex linked traits more common in males

A

if males possess the recessive allele it will be expressed (as there is no allele on the Y chromosome)

1/2 BIO (14 decks)

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