Chromosomal Basis of Inheritance I Flashcards

1
Q

In 1883, what did August Weismann do?

A

His germ plasm theory separates germ cells from somatic cells and claims that only the first are involved in inheritance.

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2
Q

What idea did Theodor Boveri propose?

A

He proposed the idea that chromosomes are the physical basis of inheritance.

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3
Q

What led to the chromosomal theory of heredity in 1902?

A

The parallels between Mendelian inheritance and chromosome behavior were well noted and gave rise to the theory.

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4
Q

What is the chromosomal theory of heredity?

A

Mendel’s hereditary factors (genes) have specific loci (positions) on chromosomes, and it is the chromosomes that undergo segregation and independent assortment.

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5
Q

The first solid evidence associating a specific gene with a specific chromosome came from which scientist?

A

The embryologist Thomas Hunt Morgan.

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6
Q

What did Morgan’s experiments show?

A

His experiments with fruit flies provided convincing evidence that chromosomes are the location of Mendel’s heritable factors.

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7
Q

What characteristics make fruit flies a convenient organism for genetic studies?

A
  1. They breed at a high rate.
  2. A generation can be bred every two weeks.
  3. They have only four pairs of chromosomes.
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8
Q

How did Morgan create mutant phenotypes in flies?

A

First, he noted wild type, or normal, phenotypes that were common in the fly population. He then started searching for traits alternative to the wild type; these are called mutant phenotypes.

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9
Q

What was the P generation of Morgan’s fly experiments?

A

He mated male flies with white eyes (mutant) with female flies with red eyes (wild type).

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10
Q

Describe the F1 generation of Morgan’s fly experiments.

A

The F1 generation all had red eyes.

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11
Q

Describe the F2 generation of Morgan’s fly experiments.

A

The F2 generation showed the 3:1 red : white eye ratio, but only males had white eyes.

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12
Q

What did Morgan determine from his experiments with fly eye color?

A

He determined that the white-eye mutant allele must be located on the X chromosome. This finding supported the chromosome theory of inheritance.

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13
Q

How does the Z-W system of sex determination work?

A

Similar to the X-Y system, but the female has a Z and a W and the male has two Zs. The presence of the W makes the female female.

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14
Q

How does the XO system of sex determination work?

A

There is only one type of chromosome: X. It is a matter of how many X chromosomes the individual has that determines the sex. Two Xs = female and one X = male.

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15
Q

How does the haploid-diploid system of sex determination work?

A

There are no sex chromosomes. The females develop from fertilized eggs and are diploid and the males develop via parthenogenesis from unfertilized eggs and are haploid.

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16
Q

What must happen for a recessive X-linked trait to be expressed?

A
  1. A female needs two copies of the allele (homozygous)
  2. A male needs only one copy of the allele (hemizygous)
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17
Q

What must happen for a female to phenotypically express a recessive X-linked trait?

A

The female must be a carrier for the trait and the male must phenotypically have the trait. This explains why X-linked recessive disorders are much more common in males than in females.

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18
Q

Give three examples of X-linked recessive disorders.

A
  1. Color blindness (mostly X-linked)
  2. Duchenne muscular dystrophy
  3. Hemophilia
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19
Q

How do we determine if genes are on different chromosomes, far apart on a chromosome, or linked?

A

By examining the recombinant frequencies of genotypes.

20
Q

If there is a 50% frequency of recombination observed for any two genes, what does that tell you about their location?

A

They are on different chromosomes and are unlinked.

21
Q

Does the word testcross refer to the wild or mutant type?

A

The mutant type.

22
Q

If recombination is not observed for two genes, what can you conclude?

A

Those two genes are perfectly linked on a chromosome.

23
Q

In Morgan’s fly experiments on linkage, what were the two traits he examined?

A

Body color and wing type.

24
Q

In Morgan’s fly experiments on linkage, what traits did the P generation flies have?

A

Wild type fly: gray body, normal wings
Mutant fly: black body, vestigial wings

25
Q

In Morgan’s fly experiments on linkage, what was the result of the cross of the P generation?

A

The F1 generation was heterozygous for both traits.

26
Q

In Morgan’s fly experiments on linkage, what was the second cross he performed?

A

He crossed the heterozygous F1 generation with a double mutant in a testcross.

27
Q

In Morgan’s fly experiments on linkage, if the result of the testcross yielded only parental phenotypes, what could you conclude?

A

Those genes were linked and sorted via dependent assortment; there were no recombinants.

28
Q

In Morgan’s fly experiments on linkage, if the results of the testcross yielded both parental phenotypes and recombinant phenotypes, what could you conclude?

A

The genes were not perfectly linked and were sorted via ~independent assortment.

29
Q

If genes are located on different chromosomes, what ratio of phenotypes would result from a testcross?

A

1:1:1:1

30
Q

If genes are located on the same chromosome and parental alleles are always inherited together, what ratio of phenotypes would result from a testcross?

A

1:1:0:0
parental : parental : recombinant : recombinant

31
Q

What did Morgan conclude from his studies on linkage?

A

From the results, Morgan reasoned that body color and wing size are usually inherited together in specific combinations (parental phenotypes) because the genes are on the same chromosome. However, non-parental phenotypes were also produced, which argued that the genes were linked on the chromosome, but the linkage was incomplete.

32
Q

What is the crossing over of homologous chromosomes? Who proposed this idea?

A

Morgan proposed that some process must sometimes break the physical connection between genes on the same chromosome. That mechanism was the crossing over of homologous chromosomes.

33
Q

How is recombination frequency calculated?

A

recombinants / offspring x 100

34
Q

What discovery did Alfred Sturtevant–one of Morgan’s students–make?

A

He realized that the recombination frequency provided him with a way to construct the genetic map, i.e., the order of genes on chromosomes.

35
Q

What is a linkage map?

A

A genetic map of chromosomes which is based on recombinant frequencies.

36
Q

What are map units?

A

A unit used to express the distance between genes. One map unit expresses about 1% recombinant frequency.

37
Q

How is recombinant frequency related to distance?

A

The higher the frequency of recombination (assortment) between two genes, the more distant the genes are from each other.

38
Q

What is recombination frequency?

A

A measure of the distance between genes.

39
Q

What is the maximum frequency of observed recombinants between two genes? Why?

A

50%. At this frequency, the genes are assorting independently, as if they were on two different chromosomes.

40
Q

What is the formula for calculating distances between pairs of loci?

A

(# recombinant progeny / total progeny) x 100 = distance between the two loci on the genetic map (% recombination)

41
Q

What is 1 map unit also equal to?

A

1% recombination or 1 centiMorgan

42
Q

Why are the recombinant frequencies of some genes slightly less than the sum of those frequencies?

A

The chromosomes cross, and when genes are particularly far apart, they can cross again, which will reduce the recombinant frequency.

43
Q

How do the linear order of genes and the spacing of genes compare?

A

The linear order of genes is identical between physical and genetic maps, but the spacing of genes is not.

44
Q

Why is the linear order of genes identical but the spacing is not?

A

Recombinant frequencies offer an estimate but the exact distance between genes is impossible to calculate without genome sequencing technology.

45
Q

What is the purpose of studying linkage?

A

It is the mechanistic basis of how we discover genes that cause diseases.