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BIOL1005 CH > Definitions > Flashcards

Definitions Flashcards

1
Q

Define Gamete

A

Haploid cell, single set of genetic instructions - sperm/egg

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2
Q

Define Zygote

A

diploid cell, double set of genetic instructions - fertilised egg/body cells

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3
Q

Define Locus

A

location of a genetic instruction on a chromosome

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4
Q

Define Allele

A

alternative forms at a particular locus

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5
Q

Define Homozygote/Heterozygote

A

identical/non-identical copies of an allele

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6
Q

Define Phenotype

A

Physical appearance of an individual with a certain genotype

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7
Q

Define Genotype

A

genetic constitution that makes up phenotype

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8
Q

Define Dominant

A

allele that when heterozygous, masks effect of other allele

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9
Q

Define Incomplete Dominance

A

expression of heterozygote phenotype is an intermediate of dominant heterozygotes e.g 4 O’clock plant

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10
Q

Define Codominance

A

phenotypic traits of a gene’s allele are both fully expressed in heterozygotes

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11
Q

Define Multiple Alleles

A

more than 2 alleles at a locus e.g Drosophila, Blood types

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12
Q

Define Lethal Alleles

A

Homozygotes are lethal e.g. Brachydactyly, Manx Cat

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13
Q

Define Pleiotropy

A

one gene affects many characters e.g. blue eyed white cats, sickle cell, tabby cats

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14
Q

Define Gene Interaction

A

Several genes affect one character e.g. sex limitation

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15
Q

Define Complementation

A

2 strains of an organism with different homozygous recessive mutations produce the same phenotype e.g. Deafness, Foxgloves

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16
Q

Define Thomas Hunt Morgan

A

came up with chromosome theory

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17
Q

Define Sex-Linked Inheritance

A

inheritance from mutant gene on either X or Y chromosome e.g. colour blindness, Lesch-Nyhan Syndrome, Haemophilia

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18
Q

Define X-Chromosome Inactivation

A

genes in one of X-chromosome pair are silenced e.g. tortoiseshell cat, red-green colour blindness, Duchenne muscular dystrophy

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19
Q

Define Lyonisation

A

All X-chromosomes of cells in excess of 1 are inactivated randomly (see X-chromosome inactivation)

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20
Q

Define Barr Body

A

Inactive X chromosome in a female somatic cell

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21
Q

Define Cytogenetics

A

study of chromosomes

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22
Q

Define Centromere

A

section where the chromosome attaches to the spindle during cell division

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23
Q

Define Telomeres

A

repeated sequences at the end of each chromosome

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24
Q

Define Polytene Chromosomes

A

oversized chromosomes developed from normal chromosomes

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25
Q

Define Metacentric Chromosomes

A

centromere at centre of chromosome

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26
Q

Define Acrocentric Chromosomes

A

centromere closer to one end of chromosome

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27
Q

Define Telocentric Chromosomes

A

centromere near very end of chromosome

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28
Q

Define P/Q arm

A

each side of centromere, P=short arm, Q=long arm

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29
Q

Define Somatic Cell Hybridisation

A

Use Sendai virus to fuse HeLa cells to human and mouse cells, used for mapping chromosomes

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30
Q

Define Fluorescent in situ Hybridisation (FISH)

A

Used to detect specific DNA sequences on chromosomes using fluorescent probes

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31
Q

Define Chromosome Deletion

A

section of chromosome removed e.g. Notch Wing, Cri-Du-Chat

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32
Q

Define Deletion mapping

A

zap chromosomes with X-rays to knock out bit of chromosome, can the figure out which genes it coded for

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33
Q

Define Chromosome Duplication

A

section of chromosome doubles up e.g. Globin, Huntington’s, Bar eye (an unnatural ability to find a bar in any situation)

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34
Q

Define Inversion

A

section of chromosome rotated and replaced, loop forms to ensure A-A

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35
Q

Define Dicentric chromosomal fragment

A

Contains two centromeres

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36
Q

Define Acentric chromosomal fragment

A

Contains no centromeres

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37
Q

Define Crossover Suppressors

A

prevent crossover between inverted and normal segments of chromosome

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38
Q

Define Translocation

A

when two non-homologous chromosomes exchange parts e.g.

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39
Q

Define Aneuploidy

A

Individuals with an excess/deficiency of chromosomes e.g. Downs Syndrome

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40
Q

Define Nondisjunction

A

When homologous chromosomes fail to separate and migrate to opposite poles = Trisomy/monosomy e.g Downs Syndrome (trisomy 21), Klinefelters Syndrome (XXY), Turners Syndrome (X0)

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41
Q

Define Trisomy

A

3 chromosomes present instead of the usual 2, form of aneuploidy caused by nondisjunctio

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42
Q

Define Monosomy

A

1 chromosome present instead of the usual 2, form of aneuploidy can be caused by nondisjunction

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43
Q

Define Somatic Aneuploidy

A

Irregular variation in chromosome number in cells in a tissue

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44
Q

Define Gynandromorph

A

Organism which contains both male and female characteristics e.g. Red/White eyed drosophila

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45
Q

Define Polyploidisation

A

changes in the number of chromosome sets, usually lethal in humans, odd numbers cannot pair in meiosis = infertile

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46
Q

Define Haplodiploidy

A

sex determination system, males come from unfertilised eggs (haploid), females come from fertilised eggs (diploid), e.g. Bees, Wasps

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47
Q

Define Autopolyploid

A

polyploid condition from duplication of one diploid set of chromosomes

48
Q

Define Allopolyploidy

A

polyploid condition formed by union of 2+ different chromosome sets (diff. species), leads to a chromosome number doubling, e.g. origin of wheats

49
Q

Define Synteny

A

2+ genomic regions derived from single ancestral genomic region, from speciation or polyploidy

50
Q

Define Backcross

A

cross with a parental type

51
Q

Define Testcross

A

cross with a double mutant

52
Q

Define Coupling

A

2 mutants/wild types in each parental strain

53
Q

Define Repulsion

A

parent has one mutant & one wild type

54
Q

Define Homologues

A

2 copies of each chromosome (paternal & maternal)

55
Q

Define Chiasma

A

point where crossing over occurs

56
Q

Define 3 point cross

A

crossing of an individual heterozygous at 3 loci, with an individual homozygous recessive at 3 loci

57
Q

Define Alfred Sturtevant

A

Developer of the 3 point cross

58
Q

Define recombination frequency

A

number of recombinants/total (smaller frequency, fewer chiasmata, closer loci)

59
Q

Define One Map unit

A

recombination frequency of 1%

60
Q

Define Linkage map

A

genetic map of a species which shows the position of its genes

61
Q

Define Crossover Interference

A

interaction between recombination events caused by chiasma influencing chance of another nearby chiasma

62
Q

Define Coefficient of Interference

A

1 - [(proportion observed)/(proportion expected)]

63
Q

Define Sex-averaged maps

A

linkage maps averaged over both sexes, due to more recombination in females

64
Q

Define Temperature sensitive mutants with examples

A

gene expression determined by temperature e.g. Siamese Cat (fur colour), Drosophila (white blood)

65
Q

Define Light sensitive mutants with examples

A

gene expression determined by light e.g. Arctic Hares, Plants

66
Q

Define Chemical sensitive mutants with examples

A

gene expression determined by chemicals e.g. E. coli, phenylketonuria, porphyria

67
Q

Define Pharmacogenetics

A

study of genetic effects on drug metabolism, variable responses to drugs depending on person

68
Q

Define Age Sensitive mutants

A

gene expression determined by age, phenotypes only expressed after a particular age (or before) e.g. Huntington’s, Cancer, Heart Disease

69
Q

Define Incomplete Penetrance

A

individuals who fail to express phenotypic trait even thought they carry mutant allele

70
Q

Define Sex-Limitation

A

autosomal - genes present in both sexes, but phenotypic traits only expressed in one sex due to hormonal environment e.g. Dorset Horned Sheep, male pattern baldness, polycystic ovary

71
Q

Define Single Nucleotide Polymorphisms (SNiPS)

A

DNA sequence variation occurring commonly in population in which a single nucleotide differs between members of the same species

72
Q

Define Qualitative Genetics

A

inheritance of character that do not fall into distinct classes e.g. height, weight

73
Q

Define Variance

A

[sum of(x - Ẍ)2]/n

74
Q

How is Standard deviation found from variance?

A

Standard Deviation = sqrt.variance

75
Q

Define Heritability

A

proportion of total variation in population that is due to genetic variation, proportion of total phenotypic variance due to genetic variance

76
Q

Define Heritability equation

A

H2 = VG/VP (V = variation, G=genotype, P=phenotype)

77
Q

Define Alternate Heritability equation

A

H2 = VG/(VG + VE + VGE) (g=gene, e=environment)

78
Q

Define Correlation coefficient equation

A

[Covariance (fathers,sons).(1/(n-1)] /[rho(fathers).rho(sons)]

79
Q

Define Covariance

A

(height - mean height: of father) x (height - mean height: of son), works out the way fathers and sons jointly deviate from the average

80
Q

What can the correlation coefficient vary between?

A

0 and 1, 1 for identical twins, 0.5 for siblings, 0.125 for cousins etc

81
Q

Define MRCA

A

Most recent common ancestor

82
Q

Define Identity By Descent (IBD)

A

alleles created when homozygous individual receives both copies of allele from the same ancestor e.g. spanish royal family (Charles II), IBD increases with inbreeding

83
Q

Does IBD increase or decrease with inbreeding?

A

Increase, inbreeding leads to loss of heterozygosity, distinct inbred lines formed

84
Q

Define Coefficient of Inbreeding (F)

A

probability that a pair of alleles at a locus will be identical by descent

85
Q

What is the equation for the Coefficient of Inbreeding (F)?

A

F = sum of N.(1/2)^n (N = no. of loops/paths, n=no. of ancestors in each loop) e.g. brother sister = 2x(1/2)^3 = 1/4

86
Q

What is the coefficient of inbreeding between cousins?

A

1/16 -> 2 x (1/2)^5

87
Q

Define Inbreeding depression

A

reduction in fitness associated with inbreeding e.g. King Charles Spaniel - syringomelia, Sunny the Bull, Song sparrow, Tutankhamun

88
Q

What are all slugs?

A

Fucking degenerate snails

89
Q

Define Anisogamy

A

union of 2 gametes which differ in size (males=smaller gamete, females=larger gametes)

90
Q

Define Patrilineal inheritance

A

male line of inheritance

91
Q

Define Y-Chromosome inheritance

A

Y chromosome differential regions recombine with X where recombination takes place

92
Q

Define Pseudo-autosomal regions

A

homologous nucleotide sequences on X and Y chromosomes which allow recombination to occur between X and Y chromosome, many genes ‘lost’ to X, but SRY gene makes males male

93
Q

Define Matrilineal inheritance

A

female line of inheritance, occurs in chloroplast & variegated plants = green/white splotches on leaves —> mothers phenotype only expressed

94
Q

What cellular organelle shows matrilineal inheritance?

A

Mitochondrial genes are only passed down through mother, slow growth (poky) phenotype in neurospora transferred with cytoplasm microinjection,

95
Q

What shape is a mitochondrial map?

A

ircular, tests using chlamydomonas resistant to different drugs proved this, 3 point cross, gene order diff. in each experiment

96
Q

Define the Endosymbiotic theory

A

key organelles of eukaryotes originated as symbiosis between different single celled organisms

97
Q

Which diseases are associated with deletions in the mitochondrial genome?

A

Ragged red fibre muscle weakness

98
Q

Which diseases are mitochondrially inherited?

A

Leber’s Hereditary optic neuropathy, degeneration of retinal ganglion cells, leads to acute loss of central vision

99
Q

Give an example of bacteria which are passed through maternal lineage

A

Wolbachia, through female cytoplasm

100
Q

Define Hardy-Weinberg equilibrium

A

allele/genotype frequencies will remain constant from generation to generation (w/out evolutionary influences) -> p^2 + 2pq + q^2 = 1

101
Q

What things can alter the Hardy-Weinberg equilibrium?

A

Genetic drift (random change), migration (admixture between Blacks and Whites), non-random mating (incompatible alleles, BRUCE in mice), natural selection

102
Q

Would a dominant or recessive allele take longer to increase in frequency?

A

Recessive alleles take much longer to increase in frequency than dominant alleles

103
Q

What are 3 classes of mutation?

A

morphological, conditional and lethal

104
Q

Cancer is usually caused by somatic mutations, but somatic genome instability can cause a predisposition to cancer, what is an example of this?

A

Retinoblastoma

105
Q

How are mutations detected in bacteria?

A

Bacteria grown on medium with an antibiotic or lacking an amino acid

106
Q

How are mutations detected in maize?

A

white allele is recessive, cross cc x CC -> Ccc (triploid), any mutation = single white seed

107
Q

How are mutations detected in mice?

A

aa bb cc ++ ++ x ++ ++ ++ dd ee -> cross, if mutation occurs at + in c locus then a+ b+ cc d+ e+ = white coat mice (calculate mutation rate)

108
Q

How are mutations detected in humans?

A

Ames test, use Salmonella to test whether chemical is a mutagen, spontaneous dominant mutations can be used to calculate mutation rate e.g. neurofibromatosis

109
Q

What is the direct method to detect mutations?

A

Direct massive protein and DNA screens for changes between offspring and parents

110
Q

Define Mutagen

A

agents that massively increase mutation rate

111
Q

What caused many watch-dial painters to die in the 1920s?

A

Radon in paint gave them bone cancer

112
Q

Why were low doses of radiation much less harmful than anticipated?

A

ue to DNA repair mechanisms repairing mutational damage over time, naked mole rat is very radiation resistant

113
Q

What is an example of natural selection in humans?

A

loss of skin pigment since escape from africa, chimpanzees -> humans (large deletions in human DNA compared to apes), origin of language (FOXP2 locus)

114
Q

What is the name of the locus where language developed?

A

FOXP2

115
Q

Between chimpanzees and humans, which has more DNA?

A

Chimpanzees, large deletions in the chimp DNA led to humans -> loss of ability to digest raw food, diminished sexual selection, but increase in brain size/neuronal connectivity

116
Q

What is a synaptomenal complex?

A

Protein structure that forms between homologous chromosomes during meiosis and mediates chromosome pairing, synapsis and recombination

BIOL1005 CH (1 decks)

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