Chromosomes Flashcards

1
Q

Where are genes located?

A

Chromosomes

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2
Q

Why was chromosome theory contentious for so long?

A

Chromosomes are invisible for most of the cell cycle

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3
Q

How was the behaviour of chromosomes found to be similar to that of mendel’s particles?

A
  1. They are present in pairs
  2. Segregate and are reformed during fertilisation
  3. Different chromosomes segregate independently
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4
Q

What did Thomas Hunt Morgan’s lab work with?

A

Drosophila

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5
Q

Which experiment discovered sex linkage?

A

THM’s red-/white-eyed flies

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6
Q

What did THM discover about red-/white-eyed flies?

A

Red female + white male –> all white F1
but
Red male + white female –> all red female, white male F1

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7
Q

What resulted from the F1 cross of THM’s sex-linkage experiment?

A

From all red cross: all females red, males half/half in F2

From cross 2: half/half for both sexes in F2

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8
Q

How does THM’s fruit fly experiment prove that genes are on chromosomes?

A

White eye allele in drosophila followed X chromosome exactly,

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9
Q

What abnormality in THM’s drosophila crosses provided further proof of chromosome theory?

A

White female + red male –> all WHITE fem, RED male in F1

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10
Q

Define aneuploidy

A

Abnormal chromosomes, different in number

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11
Q

How is sex determined in drosophila?

A

By number of X chromosomes; 2 for female, 1 for male

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12
Q

What other anomaly did THM find in his drosophila stock?

A

Attached X-stock

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13
Q

How is sex determined in birds and butterflies?

A

WW for males, WZ for females

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14
Q

Hoe do recessive alleles on the X chromosome act?

A

Transmitted mainly by females, expressed mainly my males

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15
Q

What is one famous example of a recessive X-allele

A

Haemophilia

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16
Q

Who was famous for spreading this allele across European royal families?

17
Q

Draw the pedigree of the Spanish Bourbon line starting with Philip V

A

Just kidding

18
Q

Does the royal line still carry haemophilia?

A

Probably not

19
Q

Was haemophilia present in the royal line before Victoria?

A

No, not really

20
Q

What are some other examples of sex-linked conditions?

A

Color-blindness, Lesch-Nyhan Syndrome (low IQ and self-mutilation), some rare X-linked dominants

21
Q

How many X chromosomes are ever used by either sex?

22
Q

What is the mechanism by which one X chromosome is inactivated in females?

A

X Chromosome Inactivation, Lyonisation

23
Q

Who discovered XCI?

24
Q

What is the Barr Body?

A

The inactivated X chromosome in female mammals

25
What does XCI mean for the adult female?
She is a mosaic of cells, expressing either one X or the other
26
Are Tortoise-Shelled cats an example of lyonisation?
Ye
27
What is an example of this in humans?
Female heterozygous for color-blindness; normal vision, but have patches of color-blind cells in the retina
28
Who is affected by most X-linked diseases?
Males, since they only need one copy
29
Duchenne Muscular Dystrophy results from what mutation and in what phenotype?
Mutations of the dystrophin gene, results in great wasting away of the muscles
30
Why are women generally not affected by this?
They would require two copies of the gene, and most affected males die before sexual maturity
31
How is XCI controlled?
By a single gene
32
What gene controls XCI?
Xist
33
Now, back to fruit flies: how does drosophila ensure equality of action with sex-linked genes?
All x chromosomes are active, but in males the x chromosome works twice as much
34
How is sex determined in alligators?
Temperature during egg incubation
35
How is sex determined in fish?
Social pressure