Chromosomal Basis of Inheritance Flashcards

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1
Q

The behavior of chromosomes during meiosis accounts for what Mendelian laws?

A

Law of segregation

Law of independent assortment

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2
Q

What is the chromsome theory of inheritence, who proposed this and when did they?

A

This is the theory that states 1. mendelian genes haves specific loci (positions) along a chromosome and 2. it is the chromosomes that undergo segregation and independent assortment.

Proposed by Walter Sutton and Theodor Boveri in 1902

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3
Q

Look at this picture and understand how this dihybrid cross correlates with chromosomal behavior during meiosis.

A

Do it.

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4
Q

What was Thomas Hunt Morgans organism of choice in proving evidence of genes located on specific chromosomes? What are the 3 reasons this organism choice was important we discussed in class?

A

Fruit fly

  1. Bred at high rates
  2. New generations every 2 weeks
  3. They only have 4 pairs of chromosomes
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5
Q

What is a wild type? What did Morgan describe as the wild type for his experiment with fruit flies in sex-linked experiments? What is a mutant type? What did Morgan describe as the mutant type in his fruit fly experiments?

A

Wild type - phenotypic character most commonly observed in natural population. This is the red eyed fruit fly in Morgans experiment.

Mutant type - phenotypes that are alternative to the wild type that are assumed to be due to mutations to the wild type allele. This is the white eyed male fruit fly in Morgans experiment.

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6
Q

What was Morgans hypothesis in his experiment with his fruit flies was that the white-eye mutant allele must be located on the X chromosome only. Why was this?

A

The only white-eyed fly in the F2 generation were male, this made him believe that the allele must be related to the sex chromosomes. He knew that the male fruit fly was XY and the female was XX, which made him believe that the if the X had this white-eye allele and the Y didn’t have a coresponding allele it would make sense as to why only males show this phenotype.

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7
Q

When Morgan performed his experiment with red-eyed and white-eyed flies, what was his P generation? What did the crossing of the P generation produce? What did this mean?

A

P generation was a white-eyed male and a red-eyed female

F1 generation produced were all red-eyed, this meant that the white-eyed allele must be recessive to the wild-type red eye allele.

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8
Q

What were were the products when the F1 generation of fruit flies mated (red-eyed female to red eyed male)?

A

There was a 3:1 ratio of red-eyed to white eye offspring, hoever there were never any white-eyed females. This supported Morgans hypothesis. see the picture.

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9
Q

Did Morgans findings in red-eyed and white-eyed flies support the chromosome theory of inheritance? How so? What did it also show?

A

YES - A specific gene is carried on a specific chromosome

His work also showed the genes on sex chromosomes exhibit unique inheritance patterns

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10
Q

How many genes are located on each chromosome?

A

Hundreds or thousands

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11
Q

Do some genes get inherited together? Why or why not? What are these genes termed? What Law would this deviate from if this was the case?

A

YES

If they are located near each other on the same chromosome

Called linked genes

This deviates from the law of independent assorment - look at it as if during gamete formation, where one allele goes will dictate where the other linked allele will go. The law of independent assortment states allele assort independently to other alleles.

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12
Q

How did Morgan show that linked-genes existed? Wild-type? Mutant-type? what were the parental generation? F1?

A

He crossed two true-breeding flies that had two body traits that were thought to be linked, body color and wing-size.

Wild type: Gray body & normal wings

Mutant type: Black boy, vestigial wings

F1: all gray body & normal wings

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13
Q

In Morgans linked-gene experiments, what did he do with his F1 generation, why was this performed? What were the results vs the expected results? What can explain the results?

A

The Dihybrid F1 generation (gray body & normal wings) were testcrossed with the homozygous recessive (double mutant) flies.

This allowed Morgan to find out the genotype of the F1 generation females eggs because the male generation only donates recessive alleles.

The expected results if these genes were linked were for the F2 generation to all be either one of the two parental type phenotypes, however, a small amount of them showed nonparental, or recombinant type phenotypes.

Morgan explained these results as follows: These genes are linked based on the results, however, the production of a small portion of nonparental offspring must mean that there is a mechanism that occaisonally breaks the linkage between these two genes that are on the same chromosome.

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14
Q

What is a parental type offspring? What is a recombinant type (recombinants)?

A

Parental type: These offspring inherit a phenotype that matches one of the parents (P generation)

Recombinant type: These have a phenotype that match neither of the parents. In other words, they have a new combination of traits.

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15
Q

What would the frequency of recombination be in a test-cross of a heterozygous parent that has two genes located on different chromosomes?

A

50% recombination rate. SEE PICTURE.

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16
Q

Morgans findings showed that genes can be linked, but the linkage is incomplete. What is evident to this? What causes the recombination of linked genes? What causes the recombination of unlinked genes?

UNDERSTAND PICTURE

A

The presence of recombinant phenotypes in offspring of breeding with organisms with linked genes.

Crossing over of homologous chromosomes causes recombination of linked genes

Independent assortment of homologous chromosomes causes recombination of unlinked genes

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17
Q

What is a linkage map? Who came up with this?

A

A genetic map of a chromosome based on recombination frequencies.

Alfred Sturtevant

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18
Q

What did Alfred Sturtevant predict the relationship was between distance between genes on the same chromosome and their probability of crossing over?

A

He predicted that the further apart two genes are the higher probability that a crossover will occur between them.

This would make the frequency of recombination higher.

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19
Q

What are the units on a linkage map, what do they represent?

A

one map unit is a centimorgan and represents a 1% recombination frequency.

SEE PICTURE

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20
Q

Be able to look at this picture and understand the recombination frequencies based on the distance between the two traits.

Look at the gray and normal wings and the black and vestigial wings. You know the results from Morgans experiments, this may help you understand the linkage maps.

A

DO IT.

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21
Q

Do all animals have the same sex chromosome system as humans? Some examples?

A

NO:

  1. Some like grasshoppers and cockroaches only have an X chromosome. Females have XX (2 chromosomes), and males Have XO (only one chromosome)
  2. Some birds and fishes have a system where their eggs (not the sperm) determine the sex. Designated Z and W. Females are ZW and males are ZZ.
  3. Most species of bees and ants dont have sex chromosomes. In this case the females arise from fertilized eggs and are diploid, while the males have no fathers and arise from unfertilized eggs and are haploid.

See picture:

22
Q

Do sex chromosomes carry genes that are only related to sex?

A

NO NO NO

23
Q

What are genes that are located on a sex chromosome (regardless if X or Y) called?

A

Sex-linked gene

24
Q

What are some x-linked recessive alleles in humans? (3)

A

Color blindness

Duchenne muscular dystrophy

Hemophilia

25
Q

Look at this picture and be able to understand how a recessive trait being linked to the x chromosome effects inheritance between males and females.

A

Do it.

26
Q

What is a Barr body? What causes this? Is this gender specific?

Is this an independent (random) or dependent (controlled) process?

Can these be reversed?

A

This is specific to mammalian females.

This is when an inactive X chromosome in a mammalian female condenses into a compact object.

This is caused during embryonic devleopment, when one of the X chromosomes in a female is inactivated, this allows males and females to have the same effective dose from the X chromosome. Genes in the Barr bodies are almost never expressed when in that form.

This is an independent process, each cell in embryonic development inactives either X chromosome independently of one another.

These can be reversed, specifically in cells that give rise to eggs, all the X chromosomes are active after meiosis occurs to form eggs.

27
Q

How does a female who is heterozygous for an x-linked gene act special in regards to the formation of Barr bodies? Meaning what two types of cells will arise from this process?

What does this mean in regards to allele expression?

A

They will be a mosaic of two types of cells:

Cells that have an active X derived from the father

Cells that have an active X derived from the mother

  • This means that, if heterozygous, approximately half will express one allele and the other half the other allele. Look at the cat picture to understand this further.
28
Q

Do all descendants of a cell with either X chromosome inactivated have the same X chromosome inactivated?

A

YES

29
Q

Do plant and animals tolerate large-scale chromosomal alterations the same?

A

NO, often it is fatal or cause developmental disorders in animals while plants seem to tolerate it.

30
Q

What is nondisjunction? What is the result of this?

A

This is when either:

Homologous chromosomes fail to separate normally during meiosis I

OR

Sister chromatids fail to separate during meisosi II

This results it one of the gametes receiving two of the same type of chromosome while the other receives no copy of the chromosome.

SEE PICTURE

31
Q

What is the name given for the condition caused by fertilization of gametes that have undergone nondisjunction? What are the two types of zygotes that result?

A

This condition is called aneuploidy.

A zygote can be:

  1. Trisomic (2n+1) - having three copies of a particular chromosome
  2. Monosomic (2n-1) - having only one copy of a particular chromosome
32
Q

What is the condition called when an organism has more than two complete sets of chromosomes? Some examples?

A

Polyploidy:

3n - triploidy

4n - tetraploidy

33
Q

Where is polyploidy fairly common?

A

In the plant kingdom

Can occur in some fish and amphibians as well.

34
Q

What are some alterations of chromosome structure that can occur as a result of an error in meiosis? (4)

What was an example in book given that could cause these to occur?

A
  1. Deletion - removes chromosomal segment
  2. Duplication - repeats chromosomal segment
  3. Inversion - reverses segment within a chromosome
  4. Translocation - moves segment from one chromosome to a non-homologous chromosome

Radiation was an example given that could cause any one of these to occur.

35
Q

Do all aneuploidic conditions result in death? What do they generally show if they survive?

A

NO.

A set of symptoms: or a syndrome.

These syndromes are characteristic for the specific type of aneuploidy.

36
Q

Describe what causes down syndrome? What is another name for down syndrome? What increases the frequency of down syndrome occurence?

A

Trisonomy 21: the aneuploid (nondisjunction) condition resulting in three copies of chromosome 21.

The frequency increases with the age of the mother.

37
Q

What are the 2 aneuploid (nondisjunction) conditions that arise from nondisjunction of sex chromosomes we discussed in class? Do these tend to have more effects on genetic balance or less?

A

Klinefelter syndrome - Extra X chromosomer in a male (XXY), small testes and sterile. breast enlargement and female body characteristics may be present.

Monosomy X (turner syndrome) - XO female produced (one sex chromosome). Females are sterile, only known viable monosomy in humans.

These aneuploidies seem to have less, possibly due to limited genes on Y chromosome, or the formation of Barr bodies in the X chromosomes.

38
Q

What are some conditions caused by alterations in chromosome structre (the 4 alterations discussed earlier)? There is one due to deletion and one due to translocation.

A

Cri du chat (cry of the cat) - specific deletion in chromosome 5 causes this. Cognitively challenged with catlike cry, usually die in infancy or early childhood.

Chronic myelogenous leukemia (CML) - caused by translocations of chromosomes. Abnormally short chromosome 22 (philadelphia chromosome) caused by translocation of material to chromosome 9 which becomes abnormally long.

39
Q

What are the alterations in chromosome number vs. alterations in chromosome structure we discussed? What about the specific human syndromes we discussed caused by these?

A

nondisjunction leads to aneuploidy:

  1. Trisonomy 21
  2. Klinfelter (sex chromosome)
  3. Monosomy X (turner syndrome) (sex chromosome)

Deletion, duplication, inversion, translocation:

  1. Cri du chat (cry of the cat) - Deletion
  2. CML - Translocation
40
Q

What are two inheritence patterns that are exceptions to the standard chromosome theory?

A
  1. Genomic imprinting
  2. Inheritance of organelle genes
41
Q

What is genomic imprinting? What is an example of this? Why is this significant? Does this occur in sex chromosomes or autosomes mostly?

A

Some mammalian traits have phenotypes that are dependent on which parent passed along the allele for the traits.

Another way of looking at this is that certain genes are silenced that are “stamped with an imprint” during gamete production.

If a gene is imprinted, no allele from that gene will be expressed coming from that parent. This not only means that mutant alleles will not be expressed, but it also means that the normal alleles wont be expressed. So if the other parent expresses a mutant allele then that phenotype will show. See mouse example.

This mostly occurs in autosomes.

IF HE POSTS LECTURE ABOUT THIS LISTEN TO IT TO UNDERSTAND FULLY

42
Q

Describe how inheritence of organelle genes are an exception to standard inheritance. Which parent controls this inheritance? What is an example of this?

A

This means genes that are found in organelles in the cytoplasm.

This is all dependent on the maternal parent because the zygotes cytoplasm comes from the egg.

An example given in class is from the studies of yellow or white patches on leaves on an otherwise green plant. These colorations are a result of the pigment genes in the plastids which are generally inherited from the maternal parent.

43
Q

Where does maternal inheritance of organelle genes aso importanly play a role in most animals and plants? Why is this important? What was a condition example given from a mutation in this?

A

Also seen in mitochondrial genes

Mutations in this can cause a reduction in ATP production, affecting parts of body that are most affected by energy deprivation. Like muscles, and nervous system.

A condition called mitochondrial myopathy can cause symtoms such as weakness, exercise intolerance, and muscle deterioration.

44
Q

How many gametes would be affected if nondisjunction occured in meiosis I vs. meiosis II?

A

Meiosis I - all gametes are affected:

2(n+1) 2(n-1)

Meiosis II - half would be affected

2(n) (n+1) (n-1)

45
Q

What are the only cases where monosomic occurences DO NOT result in a nonviable zygote?

A

The only monosomic occurences that result in a viable zygote occur in the sex chromosome.

46
Q

How many children are affected by down syndrome in the united states? After what age of the mother does the risk for this increase?

A

1 in 830 children

After age 30 risk increases more and more

47
Q

What happens when a male is born with an extra Y chromosome? (XYY)

What about females with trisonomy X? (XXX)

Symptoms, sterility, viable?

Why this lack of symptoms?

A

XYY - sexual development is normal, no real symptoms other than being taller

XXX - Healthy, no unusual features, just slightly taller, at risk for learning disabilities but are fertile

This lack of symptoms can be attributed to the formation of barr bodies and the lack of many genes located on chromosome Y

48
Q

What is the common “imprint” noted on imprinted genes? What is their normal affect?

A

Ususally methylation (addition of a methyl groups) is what imprints a gene and turns it off.

In some cases, this methylation help a gene express its allele. Like in the rat picture, in males the methylated gene is turned on, in females it is turned off.

49
Q

What happens to the mitochondrial DNA in sperm when it is fertilized?

A

It is destroyed by the egg.

50
Q

What is another mitochondrial disease other than mitochondrial myopathy that we discussed in class?

A

Lebers hereditary optic neuropathy - can produce blindness in people in their 20s and 30s. This disease affects oxidative phosphorylation.