Chromosome mutations Flashcards

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1
Q

What kind of mutation is the notch wing in drosophila?

A

A deletion mutation

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2
Q

What is the cause of Cri Du Chat syndrome?

A

A deletion of the tip of chromosome 5 , children die young https://www.youtube.com/watch?v=TYQrzFABQHQ

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3
Q

How can deletions be useful to gene mapping?

A

In heterozygotes, can result in unexpected phenotypes presenting themselves

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4
Q

How have duplications been important mutations in the history of life?

A

The genome expanded likely by a series of duplications

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5
Q

What evidence is there that duplications may have driven expansion of genome?

A

Often find gene families, collections of similar genes on a chromosome that could have arisen from duplicating one gene

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6
Q

What are the two kinds of duplications?

A

Tandem and reverse

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7
Q

Which type of duplication is most frequent in non-functional DNA?

A

Reverse

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8
Q

Bar Eye mutation in drosophila is an example of what kind of mutation?

A

Tandem duplication, of a particular band of the X

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9
Q

What are some strange results from Bar Eyed drosophila crosses?

A

Some are born double-bar and some with normal eyes?

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10
Q

What is the explanation for aberrant crosses in bar-eyed drosophila?

A

Mispairing of tandem duplications

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11
Q

What is an important mechanism for increasing short repeats in the genome?

A

Mispairing of tandem duplications

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12
Q

What human disease is caused by mispairing of tandem duplications?

A

Huntington’s Disease

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13
Q

Are the number of repeats in the Huntington’s gene greater for men or women?

A

Men

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14
Q

What structure results from inversion mutations and can be seen under the microscope?

A

[Poop] Loop

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15
Q

What is the significance of the inversion loop on population genetics?

A

It suppresses crossing over, mechanical strain is too much and centromeres need to be conserved

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16
Q

What do inversion loops mean for humans?

A

Reduced fertility, about 1 in 50 people has a visible chromosome inversion

17
Q

What is the significance of inversion for evolution?

A

Inverted genes cannot recombine with uninverted genes, sometimes whole complexes inverted and thus stay together

18
Q

What is the main fertility problem with translocations?

A

Unbalanced translocations are severely damaging

19
Q

How have translocation mutations been used in insect control?

A

Sending out millions of insects with translocations, causes half of all heterozygous offspring to die (unbalanced translocations); used for tsetse flies in africa

20
Q

How has translocation been useful in gene mapping?

A

XX males with part of Y translocated onto the X, allowed for locating crucial sex-determining part of Y gene

21
Q

Explain Position Effect Variegation

A

The position of an allele affects its expression, and alleles that change their position can change expression, important in cancer

22
Q

What trait is used to explain PEV?

A

White-eye in drosophila, shifting to chromosome 4 and losing part of its recessiveness

23
Q

Is cancer a genetic disease of somatic or germ cells?

A

Mostly somatic, but the distinction is fairly ambiguous; involves many mutations and not one genetic disease

24
Q

What cancer is famously caused by a translocation mutation?

A

Burkitt’s Lymphoma

25
Q

What is the mutation in Burkitt’s Lymphoma?

A

A proto-oncogene on chromosome 8 is moved closer to a gene that controls expression of antibodies in B-lymphocytes on chromosome 14