Chapter 15 Flashcards

(56 cards)

1
Q

When did the “hereditary units” become more accepted?

A

Around 1902, Sutton and Boveri (and others) noted parallels between chromosome behavior and the behavior of the proposed factors, and began to develop the chromosome theory of inheritance.

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2
Q

What was the first solid evidence of associating genes with chromosomes?

A

In the early 1900s from the work of Thomas Hunt Morgan. His early experiments provided convincing evidence that the chromosomes are the location of Mendel’s heritable factors.

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3
Q

What did Morgan study?

A

Drosophila melanogaster, a fruit fly.

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4
Q

Why did Morgan study the fruit fly?

A

They produce many offspring, a generation can be bred every two weeks, and they have only four pairs of chromosomes.

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5
Q

What is a “wild type?”

A

Normal phenotypes that were common in the fly populations. Traits alternative to the wild type are called mutant phenotypes.

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6
Q

What was the first mutant Morgan discovered?

A

A fly with white eyes instead of the wild type red eyes.

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7
Q

What was one of the experiments Morgan did?

A

Mated male flies with white eyes (mutant) with female flies with red eyes (wild type). The F1 generation all had red eyes, and the F2 generation showed a 3:1 red to white eye ratio, but only males had white eyes.

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8
Q

What did Morgan hypothesize about the white eyes x red eyes experiment?

A

That the white eyed mutant allele must be located on the X chromosome. Female flies have two X chromosomes, while males only have one (X Y). Morgan’s finding supported the chromosome theory of inheritance.

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9
Q

Are the sex chromosomes (X Y) the only chromosomal system of sex determination?

A

No.

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10
Q

What gene on the Y chromosome is responsible for the development of testes in the embryo?

A

The S R Y (sex determining region on the Y).

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11
Q

What is a sex linked gene?

A

A gene that is located on either sex chromosome. Genes on the Y chromosome are called Y linked genes.

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12
Q

How many genes have been identified on the Y chromosome?

A

78 genes that code for 25 proteins.

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13
Q

What are X-linked genes?

A

Genes on the X chromosome. The human X chromosome contains about 1,100 genes.

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14
Q

What are the conditions a recessive X linked gene is expressed?

A

A female needs two copies of the allele (homozygous), a male needs only one copy of the allele (hemizygous). X linked recessive disorders are much more common in males than in females.

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15
Q

What are some recessive X linked disorders?

A

Color blindness, Duchenne muscular dystrophy, hemophilia.

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16
Q

What happens in utero to the X chromosomes of a female fetus?

A

One of the two X chromosomes in each cell is randomly inactivated during embryonic development.

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17
Q

What happens to the inactive X chromosome?

A

Condenses into a Barr body. If a female is heterozygous for a particular gene located on the X chromosome, she will be a mosaic for that character.

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18
Q

How is the X chromosome inactivated?

A

Involves modification of the DNA and proteins bound to it called histones. A part of the chromosome contains several genes involved in the inactivation process. One of the genes there becomes active only on the chromosome that will be inactivated.

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19
Q

What is the gene that inactivates the X chromosome?

A

X I S T (X-inactive specific transcript).

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20
Q

What are linked genes?

A

Genes that are located on the same chromosome that tend to be inherited together.

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21
Q

What is genetic recombination?

A

The production of offspring with combinations of traits differing from either parent.

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22
Q

What do the findings of Mendel and Morgan relate to?

A

The chromosomal basis of recombination.

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23
Q

What are parental types?

A

Offspring with a phenotype matching one of the parental (P) phenotypes.

24
Q

What are recombinant/recombinant types?

A

Offspring with nonparental phenotypes (new combinations of traits). A 50% frequency of recombination is observed for any two genes on different chromosomes.

25
What did Morgan observe from nonparental phenotypes?
Some process must occasionally break the physical connection between genes on the same chromosome. That mechanism was the crossing over of homologous chromosomes.
26
What do recombinant chromosomes do?
Bring alleles together in new combinations in gametes. Random fertilization increases even further the number of variant combinations that can be produced. This abundance of genetic variation is the raw material upon which natural selection works.
27
What is a genetic map?
Alfred Sturtevant (one of Morgan's students) constructed an ordered list of the genetic loci along a particular chromosome.
28
What did Sturtevant predict?
He predicted that the farther apart two genes are, the higher the probability that a crossover will occur between them and therefore the higher the recombination frequency.
29
What is a linkage map?
A genetic map of a chromosome based on recombination frequencies.
30
What are map units?
Distances between genes, one map unit represents a 1% recombination frequency. Map units indicate relative distance and order, not precise locations of genes.
31
What is different about genes that are far apart on the same chromosome?
They can have a recombination frequency near 50%. These genes are physically linked, but genetically unlinked, and behave as if found on different chromosomes.
32
What happens with large scale chromosomal alterations in humans/mammals?
Leads to spontaneous abortions (miscarriages) or cause a variety of developmental disorders. Plants tolerate such genetic changes better than animals do.
33
What happens in nondisjunction?
Pairs of homologous chromosomes do not separate normally during meiosis. As a result, one gamete receives two of the same type of chromosome, and another gamete receives no copy.
34
What is aneuploidy?
Results from the fertilization of gametes in which nondisjunction occurred. Offspring with this condition have an abnormal number of a particular chromosome.
35
What is a monosomic zygote?
They have only one copy of a particular chromosome.
36
What is a trisomic zygote?
They have three copies of a particular chromosome.
37
What is polyploidy?
A condition in which an organism has more than two complete sets of chromosomes. Triploidy (3n) is three sets of chromosomes. Tetraploidy (4n) is four sets of chromosomes.
38
Where is polyploidy more common?
In plants, not animals. Polyploids are more normal in appearance than aneuploids.
39
What does breakage of a chromosome lead to?
Four types of changes in chromosome structure; deletion, duplication, inversion, translocation.
40
What is deletion?
Removes a chromosomal fragment.
41
What is duplication?
Repeats a segment.
42
What is inversion?
Reverses orientation of a segment within a chromosome.
43
What is translocation?
Moves a segment from one chromosome to another.
44
What are alterations of chromosome number/structure associated with?
A number of human conditions, which vary in severity. Some types of aneuploidy appear to upset the genetic balance less than others, resulting in individuals surviving to birth and beyond.
45
What is Down syndrome?
An aneuploid condition that results from three copies of chromosome 21. It affects about one out of every 830 children born in the united states. The frequency of Down syndrome increases with the age of the mother, a correlation that has not been explained.
46
What does nondisjunction of sex chromosomes produce?
A variety of aneuploid conditions. Klinefelter syndrome is the result of an extra chromosome in a male, producing XXY individuals. About one in 1,000 males are XXY, but do not exhibit any syndrome.
47
What is Turner syndrome?
Monosomy X, produces X0 females who are sterile; it is the only known viable monosomy in humans.
48
What is cri du chat?
Results from a specific deletion in chromosome 5. A child born with this syndrome is severely intellectually disabled and has a catlike cry; they usually die in infancy or early childhood.
49
What can translocations of chromosomes cause?
Certain cancers, including chronic myelogenous leukemia (CML).
50
What are the two normally occurring exceptions to Mendelian genetics?
One involves genes located in the nucleus, and the other involves genes located outside the nucleus. In both cases, the sex of the parent contributing an allele is a factor in the pattern of inheritance.
51
What is genomic imprinting?
For a few mammalian traits, the phenotype depends on which parent passed along the alleles for those traits. Genomic imprinting involves the silencing of certain genes depending on which parent passes them on. Most imprinted genes are on autosomes.
52
What was one of the first imprinted genes identified?
The mouse gene for insulin like growth factor 2 (I g f 2). Only the paternal allele of this gene is expressed.
53
What causes imprinting?
The result of the methylation (addition of -CH3 groups) of cysteine nucleotides. Genomic imprinting may affect only a small fraction of mammalian genes, and most imprinted genes are critical for embryonic development.
54
What are extranuclear genes?
Also called cytoplasmic genes, found in organelles in the cytoplasm. They are inherited maternally because the zygote's cytoplasm comes from the egg. E.g. mitochondria and chloroplasts.
55
What was the first evidence of extranuclear genes?
From studies on the inheritance of yellow or white patches on leaves of an otherwise green plant.
56
What happens when there's defects in mitochondrial genes?
Prevent cells from making enough ATP and result in diseases that affect the muscular and nervous systems. Ex. mitochondrial myopathy and Leber's hereditary optic neuropathy.