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Intro to Royal Pedigrees > Chromosomes > Flashcards

Chromosomes Flashcards

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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?

A

Vick

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?

A

Just one

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?

A

Mary Lyon

24
Q

What is the Barr Body?

A

The inactivated X chromosome in female mammals

25
Q

What does XCI mean for the adult female?

A

She is a mosaic of cells, expressing either one X or the other

26
Q

Are Tortoise-Shelled cats an example of lyonisation?

A

Ye

27
Q

What is an example of this in humans?

A

Female heterozygous for color-blindness; normal vision, but have patches of color-blind cells in the retina

28
Q

Who is affected by most X-linked diseases?

A

Males, since they only need one copy

29
Q

Duchenne Muscular Dystrophy results from what mutation and in what phenotype?

A

Mutations of the dystrophin gene, results in great wasting away of the muscles

30
Q

Why are women generally not affected by this?

A

They would require two copies of the gene, and most affected males die before sexual maturity

31
Q

How is XCI controlled?

A

By a single gene

32
Q

What gene controls XCI?

A

Xist

33
Q

Now, back to fruit flies: how does drosophila ensure equality of action with sex-linked genes?

A

All x chromosomes are active, but in males the x chromosome works twice as much

34
Q

How is sex determined in alligators?

A

Temperature during egg incubation

35
Q

How is sex determined in fish?

A

Social pressure

Intro to Royal Pedigrees (7 decks)

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