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Biology A2 > Bio 5: Cellular Control > Flashcards

Bio 5: Cellular Control Flashcards

1
Q

Gene

A

Length of DNA that codes for one or more polypeptides

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2
Q

Polypeptide

A

Polymer consisting of a chain of amino acids residues joined by peptide bonds

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3
Q

Protein

A

Large polypeptide usually 100 or more amino acids. Some proteins consist of one polypeptide chain and some consist of more than one polypeptide chain.

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4
Q

Transcription

A

mRNA is used.
Hydrogen bonds break
Catalysed by RNA polymerase

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5
Q

Translation

A

Assembly of polypeptides at ribosomes. The sequence is dictated by codons on mRNA.

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6
Q

Mutation

A

Change in the amount of, or arrangement of the genetic material in a cell

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7
Q

Chromosome mutations

A

Changes to the structure of chromosomes and/or to their number

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8
Q

DNA mutation

A

Changes to the genes due to changes in nucleotide base sequences

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9
Q

Point mutation/substitutions

A

One base pair replaces another

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10
Q

Insertion/deletion (frameshift)

A

One or more nucleotide pairs are inserted or deleted from a length of DNA

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11
Q

Huntington disease

A

Expanded triple nucleotide repeat
Normal gene for Huntington protein - repeating CAG

Symptoms include dementia, loss of motor control

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12
Q

Sickle cell anaemia

A

Point mutation on triplet 6 of the beta chains for haemoglobin.

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13
Q

Cystic Fibrosis

A

Deletion of tripled base pairs, deleting an amino acid in the normal polypeptide

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14
Q

Allele

A

An alternative version of a gene. At the same locus on the chromosome and codes for the same polypeptide but the change can alter the proteins structure.

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15
Q

Silent mutation

A

The base triplet has changed but it still codes for the same amino acid, the protein is unchanged

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16
Q

Operon

A

A length of DNA made up of structural genes and control sites.

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17
Q

Structural genes

A

Codes for beta-galactosidase and lactose permease

Each has base pairs that can be transcribed into a length of mRNA

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18
Q

Control sites

A

Operator region: switches on and off structural genes

Promoter region: RNA polymerase binds to it to begin the transcription of the the structural genes

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19
Q

Homeobox genes

A

Controls the development of the body plan of an organism, including polarity and positioning of the organs

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20
Q

Apoptosis

A

Programmed cell death

Enzymes break down cytoskeleton 
Cytoplasm is dense
Membrane can changes to blebs
Chromatin condenses 
Nuclear envelope breaks 
Breaks into vesicles 
Taken up by phagocytosis
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21
Q

Meiosis

A

Reduction division
Four daughter cells
Half the number of chromosomes
They are haploid

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22
Q

Bivalent

A

Pair of joined homologous chromosomes

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23
Q

Chiasmata

A

The points where non-sister chromatids within a bivalent join, where they cross over

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24
Q

Locus

A

Position of a gene on a chromosome

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25
Q

Crossing over

A

Prophase I
Non sister chromatids wrap and join at Chiasmata
Chromosomes break here
They rejoin their non sister chromatid in the same bivalent

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26
Q

Reassortment of chromosomes

A

Consequence of random distribution of maternal and paternal chromosomes at the equator

Each gamete is a different mixture of maternal and paternal

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27
Q

Reassortment of chromatids

A

Alignment at metaphase II determines their segregation at anaphase II

(After crossing over they are no longer identical)

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28
Q

Fertilisation

A

One ovum and 300 million spermatozoa

All genetically different

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29
Q

Genotype

A

The allele present within cells of an individual for a particular trait or characteristic

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30
Q

Autos ones

A

Chromosomes not concerned with determining sex

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31
Q

Homozygous

A

Two identical alleles for a gene

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32
Q

Heterozygous

A

Two different alleles of the same gene

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33
Q

Phenotype

A

Observed characteristics in an organism

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34
Q

Dominant

A

An allele is dominant if it is always expressed in the phenotype

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35
Q

Recessive

A

It is recessive if it is only expressed in the phenotype in the presence of another identical allele, or in the absence of a dominant allele

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36
Q

Codominant

A

Two alleles of the same genes are described as Codominant if they are both expressed in the phenotype of a heterozygote

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37
Q

Linkage

A

Two or more genes that are located on the same chromosome

They are normally inherited together because they don’t separate in meiosis

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38
Q

Sex linkage

A

A characteristic is sex linked if the genes that codes for it is in the sex chromosomes

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39
Q

Haemophilia A

A

Clotting factors
- factor VIII coded by a gene on X chromosome
Recessive allele expresses an altered protein
Increase in clotting time

Females with the recessive allele - carriers
Males with the recessive allele - haemophilic

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40
Q

Duchenne muscular dystrophy

A

DMD gene for muscle protein dystrophin is on the X chromosome
Boys often get muscle weakness in early childhood
Wheelchair by 10
Death due to complications by 20s

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41
Q

Sickle cell anaemia

A

Beta haemoglobin differ by one amino acid
When this haemoglobin is deoxygenated it becomes deformed and inflexible
After many cycles they becomes unusable

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42
Q

Epistasis

A

The interaction of different gene loci so that one gene locus masks or suppresses the expression of another gene locus

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43
Q

Antagonistic recessive Epistasis

A

The presence of a homozygous recessive gene at one locus prevents the second from being expressed even if the second is dominant.

The alleles at the first locus are described as Epistasic and those at the second are described as hypostatic

9:3:4 ratio

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44
Q

Antagonistic dominant Epistasis

A

The dominant allele at one locus prevents the expression of the gene at the second locus. The presence of one dominant allele at the first locus will mask the expression at the second even if the at the second there is homozygous dominant alleles.

12:3:1 or 13:3

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45
Q

Complementary Epistasis

A

Two genes at different loci need to be present in order to cause a particular phenotype.

Example:
C-R- = purple

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46
Q

Chi squared

A

Statistical test to find out if the difference between observed data and expected data is small enough to be due to chance

47
Q

Discontinuous variation

A

Clear categories
Qualitative differences
Different alleles at a single locus have large effects on locus
Different gene loci have different effects on the phenotype

48
Q

Continuous variation

A

Quantitative differences

Traits that have continuous variation are controlled by two or more traits

49
Q

Population

A

A group of individuals of the same species that can interbred

50
Q

The Hardy Weinberg principle

A

To calculate allele frequencies

Assumes:
Population is large
Mating random 
No selective advantage for any genotype
No mutation, migration or genetic drift
51
Q

Selection pressure

A

An environmental factor that confers greater chances of survival to reproductive age on some members of the population

52
Q

Stabilising selection

A

A type of natural selection in which allele and genotype frequency within populations stays the same because the organisms are already well adapted to their environment

53
Q

Genetic drift

A

The change in allele frequency in a population as some alleles pass to the next generation and some disappear. This causes some phenotypic traits to become rarer or more common

54
Q

Biological species concept

A

A group of similar organisms that can interbred and produce fertile offspring

55
Q

Phylogenetic species concept

A

A group of organisms that has similar shape, biochemistry, stages of development and behaviour. They also occupy the same ecological niche.

56
Q

Monophyletic group

A

One that includes an ancestral organism and all its descendants

57
Q

Paraphyletic group

A

Includes the most recent ancestor but not all its descendants.

Reptiles is Paraphyletic as it exclude birds which are descendants of reptiles

58
Q

Natural selection

A

The organisms that are best adapted to their environment are more likely to survive. The favourable alleles are passed to their offspring.

59
Q

Artificial selection

A

Where humans select the animals with the desirable characteristics. They allows these animals to breed so therefore the offspring have the characteristics wanted.

In cows:
Milk yield measured
Progeny of bulls tested to see which have high milk yield daughters 
Artificial insemination 
Hormones to make many eggs
Invitro fertilisation 
Surrogates
60
Q

Translation

A

Assembly of polypeptides at ribosomes. The sequence is dictated by codons on mRNA.

61
Q

Mutation

A

Change in the amount of, or arrangement of the genetic material in a cell

62
Q

Chromosome mutations

A

Changes to the structure of chromosomes and/or to their number

63
Q

DNA mutation

A

Changes to the genes due to changes in nucleotide base sequences

64
Q

Point mutation/substitutions

A

One base pair replaces another

65
Q

Insertion/deletion (frameshift)

A

One or more nucleotide pairs are inserted or deleted from a length of DNA

66
Q

Huntington disease

A

Expanded triple nucleotide repeat
Normal gene for Huntington protein - repeating CAG

Symptoms include dementia, loss of motor control

67
Q

Sickle cell anaemia

A

Point mutation on triplet 6 of the beta chains for haemoglobin.

68
Q

Cystic Fibrosis

A

Deletion of tripled base pairs, deleting an amino acid in the normal polypeptide

69
Q

Allele

A

An alternative version of a gene. At the same locus on the chromosome and codes for the same polypeptide but the change can alter the proteins structure.

70
Q

Silent mutation

A

The base triplet has changed but it still codes for the same amino acid, the protein is unchanged

71
Q

Operon

A

A length of DNA made up of structural genes and control sites.

72
Q

Structural genes

A

Codes for beta-galactosidase and lactose permease

Each has base pairs that can be transcribed into a length of mRNA

73
Q

Control sites

A

Operator region: switches on and off structural genes

Promoter region: RNA polymerase binds to it to begin the transcription of the the structural genes

74
Q

Homeobox genes

A

Controls the development of the body plan of an organism, including polarity and positioning of the organs

75
Q

Apoptosis

A

Programmed cell death

Enzymes break down cytoskeleton 
Cytoplasm is dense
Membrane can changes to blebs
Chromatin condenses 
Nuclear envelope breaks 
Breaks into vesicles 
Taken up by phagocytosis
76
Q

Meiosis

A

Reduction division
Four daughter cells
Half the number of chromosomes
They are haploid

77
Q

Bivalent

A

Pair of joined homologous chromosomes

78
Q

Chiasmata

A

The points where non-sister chromatids within a bivalent join, where they cross over

79
Q

Locus

A

Position of a gene on a chromosome

80
Q

Crossing over

A

Prophase I
Non sister chromatids wrap and join at Chiasmata
Chromosomes break here
They rejoin their non sister chromatid in the same bivalent

81
Q

Reassortment of chromosomes

A

Consequence of random distribution of maternal and paternal chromosomes at the equator

Each gamete is a different mixture of maternal and paternal

82
Q

Reassortment of chromatids

A

Alignment at metaphase II determines their segregation at anaphase II

(After crossing over they are no longer identical)

83
Q

Fertilisation

A

One ovum and 300 million spermatozoa

All genetically different

84
Q

Genotype

A

The allele present within cells of an individual for a particular trait or characteristic

85
Q

Autos ones

A

Chromosomes not concerned with determining sex

86
Q

Homozygous

A

Two identical alleles for a gene

87
Q

Heterozygous

A

Two different alleles of the same gene

88
Q

Phenotype

A

Observed characteristics in an organism

89
Q

Dominant

A

An allele is dominant if it is always expressed in the phenotype

90
Q

Recessive

A

It is recessive if it is only expressed in the phenotype in the presence of another identical allele, or in the absence of a dominant allele

91
Q

Codominant

A

Two alleles of the same genes are described as Codominant if they are both expressed in the phenotype of a heterozygote

92
Q

Linkage

A

Two or more genes that are located on the same chromosome

They are normally inherited together because they don’t separate in meiosis

93
Q

Sex linkage

A

A characteristic is sex linked if the genes that codes for it is in the sex chromosomes

94
Q

Haemophilia A

A

Clotting factors
- factor VIII coded by a gene on X chromosome
Recessive allele expresses an altered protein
Increase in clotting time

Females with the recessive allele - carriers
Males with the recessive allele - haemophilic

95
Q

Duchenne muscular dystrophy

A

DMD gene for muscle protein dystrophin is on the X chromosome
Boys often get muscle weakness in early childhood
Wheelchair by 10
Death due to complications by 20s

96
Q

Sickle cell anaemia

A

Beta haemoglobin differ by one amino acid
When this haemoglobin is deoxygenated it becomes deformed and inflexible
After many cycles they becomes unusable

97
Q

Epistasis

A

The interaction of different gene loci so that one gene locus masks or suppresses the expression of another gene locus

98
Q

Antagonistic recessive Epistasis

A

The presence of a homozygous recessive gene at one locus prevents the second from being expressed even if the second is dominant.

The alleles at the first locus are described as Epistasic and those at the second are described as hypostatic

9:3:4 ratio

99
Q

Antagonistic dominant Epistasis

A

The dominant allele at one locus prevents the expression of the gene at the second locus. The presence of one dominant allele at the first locus will mask the expression at the second even if the at the second there is homozygous dominant alleles.

12:3:1 or 13:3

100
Q

Complementary Epistasis

A

Two genes at different loci need to be present in order to cause a particular phenotype.

Example:
C-R- = purple

101
Q

Chi squared

A

Statistical test to find out if the difference between observed data and expected data is small enough to be due to chance

102
Q

Discontinuous variation

A

Clear categories
Qualitative differences
Different alleles at a single locus have large effects on locus
Different gene loci have different effects on the phenotype

103
Q

Continuous variation

A

Quantitative differences

Traits that have continuous variation are controlled by two or more traits

104
Q

Population

A

A group of individuals of the same species that can interbred

105
Q

The Hardy Weinberg principle

A

To calculate allele frequencies

Assumes:
Population is large
Mating random 
No selective advantage for any genotype
No mutation, migration or genetic drift
106
Q

Selection pressure

A

An environmental factor that confers greater chances of survival to reproductive age on some members of the population

107
Q

Stabilising selection

A

A type of natural selection in which allele and genotype frequency within populations stays the same because the organisms are already well adapted to their environment

108
Q

Genetic drift

A

The change in allele frequency in a population as some alleles pass to the next generation and some disappear. This causes some phenotypic traits to become rarer or more common

109
Q

Biological species concept

A

A group of similar organisms that can interbred and produce fertile offspring

110
Q

Phylogenetic species concept

A

A group of organisms that has similar shape, biochemistry, stages of development and behaviour. They also occupy the same ecological niche.

111
Q

Monophyletic group

A

One that includes an ancestral organism and all its descendants

112
Q

Paraphyletic group

A

Includes the most recent ancestor but not all its descendants.

Reptiles is Paraphyletic as it exclude birds which are descendants of reptiles

113
Q

Natural selection

A

The organisms that are best adapted to their environment are more likely to survive. The favourable alleles are passed to their offspring.

114
Q

Artificial selection

A

Where humans select the animals with the desirable characteristics. They allows these animals to breed so therefore the offspring have the characteristics wanted.

In cows:
Milk yield measured
Progeny of bulls tested to see which have high milk yield daughters 
Artificial insemination 
Hormones to make many eggs
Invitro fertilisation 
Surrogates

Biology A2 (8 decks)

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