Genetics Introduction Flashcards

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1
Q

What is the study of heredity and variation?

A

Genetics

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2
Q

The differences in characteristics of individuals, this is also the raw material for evolution but has no adaptive advantage

A

Variation

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3
Q

How is sickle cell anemia advantageous to places where malaria is common?

A

There is a increase in resistance to malaria because of only having 1 copy of the mutated allele

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4
Q

Dominant or Non-dominant: Tounge roller

A

Dominant

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5
Q

Dominant or Non-dominant: Cleft Chin

A

Dominant

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6
Q

Dominant or Non-dominant: Dimples

A

Dominant

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7
Q

This is the sum total of genes or the genetic makeup of an individual

A

Genotype

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8
Q

This is the sum total of characteristics or traits

A

Phenotype

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9
Q

What are the 4 types of characteristics?

A

Morphological or anatomical, physiological, sexual, and behavioral

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10
Q

Type of characteristic: type of cell, shape of organ or cells etc

A

Morphological

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11
Q

Type of characteristic: function eg. issues with cancer, tubercolosis

A

Physiological

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12
Q

Type of characteristic: primary and secondary characteristics eg. development of gonads, mammary glands and pubic hair

A

Sexual

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13
Q

What are the identifying characteristics of male Drosophila melanogasters?

A

Smaller in size, black and rounded abdominal segment, bears a sex comb on first thoracic leg, thorax contains wings

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14
Q

What are the identifying characteristics of female Drosophila melanogasters?

A

Larger size, posterior abdominal segment is transparent with pointed protruding plate, absent sex comb, hind wing in folded condition more extended

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15
Q

Type of characteristic: down syndrome, psychological and mental disorders

A

Behavioral

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16
Q

An example of behavioral characteristic that exhibits light skinned pigmentation and mental retardation, this is also an inborn error in metabolism which can be detected at birth

A

Phenylketonuria

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17
Q

What is the gene involved in phenylketonuria that has multiple effects?

A

Pleiotropic gene

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18
Q

When this enzyme is not produced thus causing the accumulation of phenylalanine

A

Phenyl hydroxylase

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19
Q

This can become toxic that can break down brain cells causing mental retardation

A

Phenylpyruvate

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20
Q

Tyrosine is converted to melanin but without the phenylalanine hydroxylase, what does it cause?

A

Fair skinned pigmentation

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21
Q

At what phase of the cell cycle does duplication occur?

A

S phase

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22
Q

What do you call a chromosome without a centromere?

A

Acentric

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23
Q

What happens to acentric chromosomes during anaphasic movement?

A

It lags and eventually becomes lost

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24
Q

What is a homologous chromosome?

A

It is 2 duplicated chromosomes containing the same genes, however it could also contain different variations of the same gene

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25
Q

When are homologous chromosomes divided?

A

During meiosis 1

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26
Q

What is a sister chromatid?

A

It is 1/2 of the duplicated chromosome, they also contain the exact same copy of genes

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27
Q

When are sister chromatids divided?

A

During meiosis 2

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28
Q

What is the other term for alleles?

A

Allelomorphs

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29
Q

What are homologous chromosomes composed of?

A

1 paternal and 1 maternal chromosomes

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30
Q

What are the different characteristics of chromosome morphology?

A

Size, position of the centromere, banding patterns, and presence of secondary constrictions or satellites

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31
Q

Chromosome morphology: long, medium, short or small

A

Size

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32
Q

Chromosome morphology: metacentric , sub metacentric, acrocentric, telocentric

A

Position of the centromere

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33
Q

What do you call when the centromere is at the center of the chromosome resulting to equal arms and appears as a V shape during anaphase?

A

Metacentric

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34
Q

When the centromere is on one side or sub median, and it is in either a V shape or J shape during anaphase, what is it called?

A

Sub metacentric

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35
Q

When the centromere is located close to one end, are called sub terminal, and produces a j or rod shape, what is it called?

A

Acrocentric

36
Q

These are unstable where the centromere appears to be at the end of the chromosome, this is also called a terminal rod shape during anaphase

A

Telocentric

37
Q

Why are there visible banding patterns in chromosomes?

A

Some materials are more condensed than others, thus the darker stain in some parts

38
Q

What do you call the light areas of the chromosome?

A

Euchromatin

39
Q

What is a heterochromatin?

A

This is the darkly stained areas in a chromosome

40
Q

What are the 4 common staining procedures?

A

G-banding, Q-banding, R-banding, C-banding

41
Q

What banding technique treats metaphase spreads with trypsin, is stained with giemsa stain, and is observed under a light microscope?

A

G-banding (appearance of darkly stained G bands)

42
Q

What is trypsin?

A

An enzyme that digest part of chromosomal protein

43
Q

What is done in Q-banding?

A

The metaphase spread is treated with the chemical quinacrine mustard, and is observed under a special ultraviolet light microscope thus the bright fluorescent bands upon exposure but appears similar to G banding pattern

44
Q

This is the reverse of G-banding

A

R-banding

45
Q

The metaphase spread is heated at high temps to achieve partial denaturation of DNA, this is also stained with giemsa and is observed under a light microscope

A

R-banding

46
Q

What is C-banding?

A

The metaphase spreads are chemically treated to extract DNA from the arms but not the cemtromeric regions. This is also stained with giemsa and is also observed under a light microscope

47
Q

What does the darkly stained C band centromeric region corresponds to?

A

Region of constitutive heterochromatin

48
Q

How is karyotyping done?

A

After blood extraction, phytohemagglutinin (PHA) and culture medium is added which is then cultured at 37 celsium for 3 days, after this, colchicine is added and hypotonic saline. The cells are fixed and spread onto slides by dropping. They are then digested with trypsin and stained with giemsa. The spread is then analyzed to produce the karyotype

49
Q

What is phytohemagglutinin (PHA)?

A

This is a mitogen that stimulates mitosis

50
Q

This arrests spindle fiber formation

A

Colchicine

51
Q

What do you call the karyotyping of fetal cells?

A

Amniocentesis

52
Q

What are nucleolar organizing regions?

A

These are chromosomal regions that are crucial for the formation of the nucleolus

53
Q

Chromosome morphology: nucleolar organizing regions

A

Presence if secondary constrictions/satellite

54
Q

This is a diagrammatic representation of the karyotype that shows all pairs of homologous chromosomes in the nucleus. The centromeres a re aligned and the short arm is uppermost

A

Idiogram

55
Q

What are the 2 parts of the cell cycle?

A

The interphase and mitosis

56
Q

What are the 3 stages in interphase?

A

Gap 1, S phase, and Gap 2

57
Q

What happens during G1?

A

Growth

58
Q

What happens during S phase?

A

Growth and DNA replication

59
Q

What happens during G2?

A

Growth and final preparations for division

60
Q

The process that forms the gametes

A

Meiosis

61
Q

This is reductional in nature so gametes have half of the chromosome number

A

Meiosis 1

62
Q

Why is meiosis 2 equational in nature?

A

This is because the haploid gametes from meiosis 1 are joined together during fertilization re-establishing the diploid condition

63
Q

What are the different stages if prophase 1

A

Leptotene, zygotene, pachytene, diplotene, diakinesis

64
Q

This is when synapsis or the pairing of homologous chromosomes occur

A

Zygotene

65
Q

This is when crossing over or recombination occurs that is 1 mechanism of variation

A

Pachytene

66
Q

What happens during metaphase 1?

A

Random arrangement of paternal and maternal chromosomes at the metaphase plate. This is also the 2nd mechanism in enhancing variation

67
Q

This is when the chromosomes move to opposite poles and no duplications occurs yet

A

Anaphase 1

68
Q

When is the binomial equation used?

A

To determine the number if chromosomally different types of gametes and the types and frequency of each type of gamete

69
Q

What is the probability of obtaining a paternal or maternal chromosome in the gamete from one homologous pair of chromosomes

A

1/2

70
Q

The probability of 2 independent events occurring together is equal to the product of their individual probabilities

A

Product rule of probability

71
Q

What is the sum rule of probability?

A

This is the probability of 2 mutually exclusive events occurring together is equal to the sum of their individual probabilities.

72
Q

What does 2n=4 mean?

A

There are 2 sets of chromosomes with 2 chromosomes per set

73
Q

What do you call a pair of synapse chromosome?

A

Bivalent/synaptonemal complex

74
Q

What is the relevance of duplication of chromosomes?

A

This is to maintain chromosome number, and for the daughter cells to be genetically identical to the parents

75
Q

What do you call the position occupied by a gene?

A

Locus

76
Q

_______ should occupy the same locus in the pair of homologous chromosomes

A

Alleles

77
Q

What are examples of alleles?

A

Eye color, hair color, height, weight, IQ

78
Q

When are genes not an exact copy?

A

During the presence of the formation of the gametes and during crossing over

79
Q

What do you call the color coded type of karyotyping?

A

Spectral karyotyping

80
Q

This plays a role in nucleolus reformation after division

A

NORs

81
Q

Eggs undergo________

A

Senescence

82
Q

When are oocytes arrested? (Continued during puberty)

A

Prophase 1

83
Q

What is the urinary bladder of a fetus?

A

Allantois (also for waste)

84
Q

What can be detected in karyotyping?

A

Genetic disorders, chromosome number, sex, chromosomal aberrations

85
Q

When is there value in polyploidy?

A

For plantae

86
Q

What effect does the 2 mechanisms for variation have on the daughter cells?

A

This allows them to be chromosomally different, making them genetically different