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COB Genetics > Lec 9. Chromosome variation II > Flashcards

Lec 9. Chromosome variation II Flashcards

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Biology 101 flashcards
1
Q

What is metacentric?

A

centromere in the middle

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2
Q

What is submetacentric?

A

chromosome with somewhat smaller arm

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3
Q

What is acrocentric?

A

chromosome with small arm

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4
Q

What is telocentric?

A

chromosome with no arm

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5
Q

Which chromosomes have a satellite that can be recognized by a secondary constriction?

A

13,14,15,21,22

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6
Q

What does P stand for pertaining to chromosomes?

A

P is the short arm

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7
Q

What does q stand for pertaining to chromosomes?

A

q is the long arm

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8
Q

What does the satellite contain?

A

NOR (nucleolar organizer region)

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9
Q

What does NOR do?

A

Can be detected by silver staining and is a useful landmark for chromosome indentification

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10
Q

What do chromosome mutations include?

A

Rearrangements, aneuploids and polyploids

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11
Q

What are the three steps to karyotyping?

A

Chromosomes prepared from actively dividing cells. Halted in metaphase with colchicine. Chromosomes arranged according to size.

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12
Q

What are the 4 types of banding?

A

G,Q,C,R

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13
Q

What stain is used for G bands?

A

Giemsa stain

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14
Q

What stain is used for Q bands?

A

Quinacrine stain

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15
Q

What do C bands show?

A

Reveals centromeric heterochromatin

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16
Q

What do R bands show?

A

Region rich in C-G base pairs

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17
Q

What does G banding show?

A

Heterochromatin stains intensely(A-T rich) and euchromatin (G-C) stains lightly.

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18
Q

What does Q banding show?

A

Florescent stain for A-T rich regions

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19
Q

What does T banding show?

A

Telomeric banding after heat denaturation

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20
Q

What is the G-banded chromosome band resolution?

A

400-600

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21
Q

What phase do chromosomes need to be for G-banding?

A

Metaphase

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22
Q

How is chromosome painting done?

A

Fluorescent-tagged chromosome specific DNA sequences.

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23
Q

What is aneuploidy?

A

the loss or gain of chromosomes

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24
Q

What is polyploidy?

A

Those containing more than 2 complete paired homologous sets of chromosomes

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25
Q

What is an ex of aneuploidy?

A

trisomy

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26
Q

What is an ex of polyploidy?

A

Autotriploid

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27
Q

Chromosome rearrangements alter

A

chromosome structure

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28
Q

What are the 4 types of rearrangements?

A

Duplication,deletion,inversion,translocation

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29
Q

What does inversion mean?

A

a segment of chromosome is turned 180

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30
Q

What does translocation mean?

A

a segment of chromosome moves to another place of the same chromosome

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31
Q

Chromosomal rearrangements usually happen because of what?

A

mispairing of repeated regions of the genome

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32
Q

In an individual heterozygous for a duplication, the duplicated chromosome loops out during pairing in what phase?

A

Prophase I

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33
Q

What region is prone to damage?

A

The duplicated region which LOOPs

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34
Q

What does the Bar phenotype in Drosophila results from?

A

X-linked duplication

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35
Q

What is a deletion?

A

Loss of chromosomal segment

36
Q

What are 3 effects of deletions?

A

imbalances in gene product, expression of a normally recessive gene, haploinsufficiency

37
Q

What is the notch phenotype produced by?

A

chromosome deletion

38
Q

What does the notch gene do?

A

Huge for development especially the heart

39
Q

Symptoms: Austism, ADHD, learning disability, large head, wide-set eyes, schizophrenia, loose joints, underdeveloped parts of brain. What disease is this?

A

1q21.1 duplication syndrome

40
Q

Symptoms: TAR, Autism, epilepsy, dysmorphism, missing kidneys, cancer. What disease is this

A

1q21.1 deletion syndrome

41
Q

Symptoms: Heart defect, developmental problems. Most common micro deletion sydrome. What is the disease?

A

DiGeorge Syndrome: 22q11.2 deletion

42
Q

Symptoms: Severe neurodevelopmental disorder. Occurs 1 in 40k. What is the disease?

A

15q13.3 microdeletion

43
Q

What is paracentric inversion?

A

An inversion in which the breakpoints are confined to one arm of a chromosome without the centromere

44
Q

What is pericentric inversion?

A

An inversion in which the breakpoints occurs on both arms of a chromosome, involves the centromere.

45
Q

Do problems arise in homozygous individuals when inversions occur in meiosis?

A

No

46
Q

Do problems arise in heterozygous individuals when inversions occur in meiosis?

A

Yes

47
Q

Why do problems arise in heterozygous individuals with inversions in meiosis?

A

Homologos sequences align only if the 2 chromosomes form an inversion loop, this loops causes stress on the DNA. Individuals with para and peri inversions often have nonfunctional gametes due to loss of large amounts of genetic material during meiosis.

48
Q

True or False? Translocations can only be unbalanced

A

False. Can be either balanced or unbalanced

49
Q

What is reciprocal translocation?

A

an exchange of material between nonhomologous chromosomes

50
Q

What is nonreciprocal translocation?

A

Transfer of genes from one chromosome to another nonhomologous chromosome

51
Q

What is Robertsonian translocation?

A

Translocation in chromsomes that results in two of the long arms coming together and the short arms coming together as well. resulting in losing the short arms and keeping one big chromosome (two long arms).

52
Q

What human chromosome is said to have resulted from Robertsonian translocation?

A

chromosome 2

53
Q

What chromosome differs in humans and chimpanzees due to a pericentric inversion?

A

Chromosome 4

54
Q

What chromosome differs in humans and gorrillas due to a paracentric inversion?

A

chromosome 7

55
Q

What are the terms for variation in chromosome number?

A

Aneuploidy and ployploidy

56
Q

What is aneuploidy?

A

An increase or decrease in the number of individual chromosomes

57
Q

What are 3 causes of aneuploidy?

A

Deletion of centromere during mitosis and meiosis. Robertsonian translocation. Nondisjunction during mitosis and meiosis

58
Q

What are the types of aneuploidy?

A

Nullisomy, monosomy, trisomy, tetrasomy

59
Q

What is nullisomy?

A

loss of both members of a homologous pair of chromosomes. 2n-2

60
Q

What is monosomy?

A

loss of a single chromosome. 2n-1

61
Q

What is trisomy?

A

Gain of a single chromosome. 2n+1

62
Q

What is tetrasomy?

A

gain of two homologous chromosomes. 2n+2

63
Q

What are some examples of aneuploidy in sex-chromsomes of humans?

A

Turner syndrome XO. Klinefelter Syndrome XXY

64
Q

What is a good example of aneuploidy in plants?

A

Jimson weed

65
Q

What are some examples of aneuploidy in autosomal aneuploids?

A

Trisomy 21. Familial down syndrome.

66
Q

How does Trisomy 21 happen?

A

Primary down syndrome caused by the presence of three copies of chromosome 21. 75% random nondisjunction in egg formation

67
Q

How does Familial down syndrome happen?

A

Robertsonian translocation between chromosome 21 onto any other chromosome

68
Q

What carriers are at increased risk for producing children with down syndrome?

A

Translocation carriers

69
Q

The incidence of primary down syndrome and other aneuplouds increases with what?

A

Increases with older age from both men and women

70
Q

What are some examples of aneuploidy in autosomal aneauploids in humans ordering them from most common to least common?

A

trisomy 21, trisomy 18: edwards syndrome, 13: Patau syndrome, and Trisomy 8.

71
Q

Why is there a drastic decrease in frequency of trisomic syndrome from chromosome 18 to chromosome 8?

A

The size of chromosome and the size og genes involved

72
Q

What is the cause of Cri-du-chat syndrome?

A

Deletion on chromosome 5

73
Q

What is the cause of Fragile X syndrome?

A

Duplication on X chromosome

74
Q

What is the cause of Acute myelogenous leukemia?

A

Translocation in which part of chromosome 22 moved to 9

75
Q

What is the cause of Klinefelter syndrome?

A

extra X chromosome in males

76
Q

What is the cause of Turner syndrome?

A

One X chromosome missing in females

77
Q

What are two categories of polyploidy?

A

Autopolploidy and allopolyploidy

78
Q

What is polyploidy?

A

Presence of more than two sets of chromosomes

79
Q

What is autopolyploidy?

A

From single species. whole genome has been duplicated

80
Q

What is allopolyploidy?

A

From two or more species

81
Q

In what two ways can autopolyploidy arise from?

A

Nondisjunction in mitosis or meiosis

82
Q

In what way do most allopolyploids arise from?

A

From hybridization between two species followed by chromosome doubling.

83
Q

What is the significance of polyploidy?

A

Increase in cell size, larger plant attributes and evolution may give rise to new species.

84
Q

What is an allohexaploid?

A

the fusion of genomes from 3 separate species

85
Q

What is an example of an allohexaploid?

A

Chromosomes of wheat

86
Q

What leads to cancer?

A

Genomic instability

87
Q

what is the link between cancer and polyploidy?

A

One of the initiator events of cancer is polyploidy

COB Genetics (32 decks)

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