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Pathophys > Genetics > Flashcards

Genetics Flashcards

1
Q

How many somatic chromosomes do we have? How are they numbered? How many copies do we have of each and where do they come from?

A
  1. 22
  2. Numbered decreasing in size (except 21 is actually the smallest).
  3. Two copies, one from mom and one from dad.
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2
Q

Do the X and Y chromosomes carry all of the same stuff?

A

Most of what is on the Y is on the X.
There is some special stuff that is on the Y that is not on the X.
There is not really anything on the X that is not on the Y.

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3
Q

What is DNA a blueprint for?

A

Proteins.

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4
Q

When we made a copy of our DNA, send it as mRNA to where? And what happens there?

A
  1. To the cytoplasm

2. Where there ribosomes will use it to produce proteins.

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5
Q

Replication of DNA- the two chains of the double helix separate and then which chain serves as the template for a new complementary chain?

A

Each chain serves as the template for a new complementary chain.

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6
Q

Name two differences between DNA and RNA.

A
  1. Instead of de-oxyribose RNA has ribose and instead of the base pair Thymine RNA has Uracil.
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7
Q

A change in any base pair of DNA could potentially change what?

A

The amino acid that is coded for and then the resulting protein.

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8
Q

How many base pairs are in a codon? What does each codon code for?

A
  1. 3

2. Amino Acid

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9
Q

Does every unique combination of base pairs result in a unique amino acid?

A

No.

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10
Q

What is a single nucleotide polymorphism?

A

A change in one nucleotide. 1 base pair change.

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11
Q

When there is a single nucleotide polymorphism what happens to the resulting AA and protein?

A

The one AA coded for by this could potentially change. It might not depending on what the change is. At most, the resulting protein will be different by one AA.

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12
Q

What is the most common error in DNA transcription?

A

Single nucleotide polymorphism.

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13
Q

What happens when a deletion occurs? What is another name for this?

A
  1. Every base pair is shifted over one.

2. Frameshift mutation.

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14
Q

When there is a frameshift mutation what happens to the resulting AA and proteins? What can we consider the proteins?

A
  1. Every AA after the mutation is going to potentially be wrong. If you delete one and shift everything up on a scan-tron…you just failed.
  2. The resulting proteins are complete garbage.
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15
Q

Other then deletion, what is the other framshift mutation?

A

Insertion

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16
Q

In regards to genetic disorders, what has happened when there is a single gene disorder? What can they be classified as?

A
  1. One gene has some kind of a mutation.

2. Dominant, Recessive or X-linked.

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17
Q

We have two copies of each gene, one from mom and one from dad, when we go to make a protein which one do we use?

A

We use both of them.

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18
Q

Why are X-linked disorders special in men compared to women?

A

Females have two X’s, males only have one…so if they have a bad one then they have the disease whereas the female has a chance to have one good one as well.

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19
Q

Hemophilia is what kind of a genetic disorder? Meaning?

A
  1. X-linked recessive

2. Both X’s have to be bad in a female and well the male with one bad X gets the disease.

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20
Q

If a female has one hemophilia X and one normal X, what is she considered? How will her blood clot?

A
  1. Carrier

2. She will have partial hemophilia.

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21
Q

In a dominant X-linked disease what normally happens to the female and male? Are these types of disorders common or rare?

A
  1. Female will end up with the disease whereas males usually do not survive in utero.
  2. Rare and only a few known (they get bred out of the gene pool quite quickly).
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22
Q

Why are males more likely to have red color blindness? How many red receptors do males have? How many red receptors do females have? What else does this mean?

A
  1. The red-receptor is found on the X chromosome. It is recessive X-linked.
  2. 1
  3. 2
  4. Females can see more color differences. So if a guy can’t distinguish a red that we can it’s not because he’s lying it’s because he’s male.
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23
Q

What does aneuploidy mean?

A

The wrong number of chromosomes.

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24
Q

If we were to have the wrong number of chromosomes, typically what could we survive better with more or less?

A

More. We can survive having a third copy of a chromosome better than we can survive missing a chromosome.

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25
Q

What does tripoldy mean?

A

Three copies of some chromosome.

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26
Q

What is the most survivable somatic trisomy?

A

Trisomy 21- Downs.

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27
Q

Is there a survivable somatic monosomy?

A

No. If you are missing a chromosome 1-22 you do not make it through development.

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28
Q

Other than trisomy 21, name two other survivable somatic trisomys.

A

13 and 18.

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29
Q

What is the only survivable monosomy? What is this person missing? Will they be completely normal?

A
  1. Turners.
  2. Female that is missing the second X.
  3. No.
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30
Q

What happens if a male has an extra X?

A

He has Klinefelters.

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31
Q

What happens if a male has an extra Y?

A

No problem.

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32
Q

What happens if a male has no X?

A

They die.

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33
Q

What is polyploidy? Does this work in humans?

A
  1. An extra set of chromosomes, two sperm and one egg.

2. No, they do not survive long in utero.

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34
Q

The location in the genome is called the?

A

Locus.

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35
Q

One member of a pair of genes is an?

A

Allele

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36
Q

Genetic material is referred to as the?

A

Genotype

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37
Q

Physical manifestation is referred to as the?

A

Phenotype.

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38
Q

The chance that phenotype follows genotype is called?

A

Penetrance.

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39
Q

Alleles on a single chromosome are referred to as the?

A

Haplotype.

40
Q

Gene rearrangement between homologous chromosomes is called?

A

Recombination/crossover.

41
Q

Do we have 100% penetrance?

A

No.

42
Q

Where did our chromosome one come from? Before that where?

A

One copy of our chromosome one came from our mom and one from our dad. The chromosome one that we got from our mom is a combination of our maternal grandparents chromosome one. The chromosome one that we got from our dad is a combination of our paternal grandparents chromosome one.

43
Q

The short arm of a chromatid is referred to by which letter?

A

P

44
Q

The long arm of the chromatid is referred to by which letter?

A

Q

45
Q

The center where the short (P) arm and long (Q) arm come together is called the?

A

Centromere.

46
Q

How are our chromosomes usually floating around?

A

The two chromosomes for each gene are normally floating around independent of each other.

47
Q

When do we do meiosis?

A

To make gametes.

48
Q

When cells go through mitosis what is the normal result after cell division?

A

Two identical daughter copies.

49
Q

In meiosis, we end up with cells with how many set of chromosomes?

A

One.

50
Q

Why do we only end up with one set of chromosomes after meiosis?

A

Because that one from mom (or dad) is going to get together with the one from dad (or mom).

51
Q

Once our one copy of chromosome one from mom and dad get together what happens? How many copies do we end up with?

A
  1. They are going to exchange genetic material and then we are going to pull them apart.
  2. We end up having four copies of chromosome one.
52
Q

As a part of meiosis, are the four copies of chromosome one, that resulted from the exchange of genetic material from mom and dad, the same as the parents copies of chromosome one?

A

No. These four copies are all different then all of the other chromosome ones in our body.

53
Q

During meiosis, what do we do after we have four unique copies of chromosome one? Do these cells look anything like any other cell in our body?

A
  1. We pull them apart into two cells with two sets of chromosomes.
  2. No
54
Q

What would have to happen during meiosis to cause a nondisjunction? When could this happen?

A
  1. We don’t pull the chromosome apart.
  2. During meiosis one when we are pulling four copies of chromosomes into two cells each with two copies of that chromosome or during meiosis II when we are pulling apart both cells with two copies into four cells each with one copy of the chromosome.
55
Q

What will nondisjunction result in?

A

Aneuploidy- a Trisomy and a monosomy

56
Q

What percentage of trisomy 21 fetuses make it to full gestation? What happens to the rest?

A
  1. 1/3.

2. The other two thirds spontaneously abort.

57
Q

Down Syndrome increases with what?

A

Increased maternal age.

58
Q

When do females start making eggs? How many? How many are used? Why does this matter?

A
  1. In utero
  2. 2 Million
  4. Your eggs have been sitting around for awhile. Think about the various proteins and enzymes that are going to pull this thing apart. Remember this egg has been sitting there for 20 years. Those proteins have been sitting there for years and they start degrading and as they start degrading the process becomes less and less efficient. This is why we see Downs with increased maternal age.
59
Q

Why is paternal age insignificant in Downs?

A

Males start the process of sperm making in puberty. Every day they wake up and make a couple million more. The sperm are fresh.

60
Q

What is Klinefelters? Intelligence, body characteristics, reproduction?

A
  1. Trisomy which a male has an extra X.
  2. Roughly normal intelligence
  3. Less manly looking, narrower shoulders, wider hips, small testes, some development of the breasts, sparse body hair, long limbs
  4. Infertile, although, people claim with a lot of medical intervention you can get live sperm out of them
61
Q

What is Turners? Characteristics? Reproduction? What other problems are likely?

A
  1. Turners is a female that is missing an X.
  2. Almost normal, roughly normal intelligence, almost normal appearance, you don’t usually immediately spot it but webbed necking, less breast development, broad shoulders,short stature, widely spaced nipples
  3. Imperfectly developed ovaries. They have all the stuff they are supposed too but the ovaries stop functioning before they start function. Theoretically they could get pregnant with someone else’s eggs as long as they were given a lot of hormones to maintain the pregnancy.
  4. Cardiovascular.
62
Q

How do we mix up our genetic material? What else is this referred to as?

A
  1. Crossover

2. Increasing genetic diversity.

63
Q

Who else has the chromosome that we are going to give to our offspring?

A

No one, it’s brand new.

64
Q

Do genes cross over in one place?

A

No, the cross over in many places.

65
Q

If during cross over, we end up with two copies of a certain gene, is this okay?

A

Yes, we can tolerate a little extra genetic material. There are plenty of things that we could stand having an extra of.

66
Q

What happens if during cross over we end up with a lot of extra genetic material?

A

Bad news, we will start seeing problems (like in Downs)

67
Q

What kind of problem is a deletion during crossover? Why? Give an example.

A
  1. BIG problem. because a chromosome segment is lost
  2. If we delete a gene and say we only have two copies of it. Now we only have one copy of it.
  3. Cri du chat- cry of the cat is a deletion of part of 5Q. These kids end up with severe mental retardation.
68
Q

If chromosome one and chromosome two get together what happens? What is this called? Who will this be a problem for and why? Who won’t this be a problem for and why?

A
  1. You will now have a chromosome one with a piece of chromosome two and a chromosome two with a piece of one.
  2. Reciprocal trans-location
  3. When the person who has the reciprocal trans-location attempts to reproduce and the chromosome breaks up and interacts with the fathers the offspring may not get all the genetic material. Could be missing valuable genetic material. Could result in lots of spontaneous abortions.
  4. Genetically, we wouldn’t be affected because we have all of the right genes they are just translocated.
69
Q

There are many different standard translocation errors occurring right at the edges of genes that increase the risk for what?

A

Cancer

70
Q

Familial hypercholesterolemia is what kind of a gene disorder?

A

Single gene dominant

71
Q

Sickle cell anemia is what kind of a gene disorder?

A

Single gene recessive

72
Q

Huntington disease is what kind of a gene disorder?

A

Single gene dominant

73
Q

Achrondroplasia is what kind of a gene disorder?

A

Single gene dominant

74
Q

Duchenne muscular dystrophy is what kind of a gene disorder?

A

Single gene X-linked Recessive

75
Q

Cystic Fibrosis is what kind of gene disorder?

A

Single gene recessive

76
Q

Marfans is what kind of a gene disorder?

A

Single gene dominant

77
Q

Hemophilia A is what kind of a gene disorder?

A

Single gene X-linked recessive

78
Q

Lysosomal storage diseases such as Tay-Sachs, Gaucher and Niemann-Pick are what kind of gene disorders?

A

Single gene recessive

79
Q

Phenylketonuria is what kind of a gene disorder?

A

Single gene recessive

80
Q

What kind of gene disorder is retinoblastoma?

A

single gene dominant

81
Q

What kind of gene disorder is li-fraumeni?

A

single gene dominant

82
Q

Glycogen storage diseases are what kind of gene disorders?

A

single gene recessive

83
Q

Name the six listed single gene dominant disorders.

A

1, Familial hypercholesterolemia

  1. Huntington disease
  2. Achondroplasia
  3. Marfan
  4. Retinoblastoma
  5. Li-fraumeni
84
Q

Name the five listed single gene recessive disorders.

A
  1. Sickle cell anemia
  2. CF
  3. lysosomal storage diseases
  4. PKU
  5. glycogen storage diseases
85
Q

Name the two listed single gene recessive X-linked disorders.

A
  1. duchenne muscular dystrophy

2. Hemophilia A.

86
Q

In the case of familial hypercholesterolemia, if we have one bad gene and one good gene for the LDL receptor what happens?

A

Half of the receptors are bad. When the cell goes to make proteins for the LDL receptor half of them are bad. The rate of cholesterol uptake decreases by 50% roughly. The cell can’t get cholesterol so it tells the liver to make more. The liver does and it will make more until the cells are happy. They would end up with double the normal LDL levels.

87
Q

What happens if a person had two bad LDL receptors?

A

The cells can’t make organelles. The liver would just keep cranking out more and more cholesterol and we would see levels as high as 5000. Most likely this person would die in utero.

88
Q

In a dominant disease, when someone is homozygously affected what does this normally mean?

A

That it’s a lethal condition. We aren’t going to see a lot of these. One affected and one normal is more likely

89
Q

When someone has short limbs relative to trunk length, a prominent forehead, low nasal root and redundant skin folds in the arms and legs this is called? What percentage of this is inherited?

A
  1. Achondroplasia.
    Normal size head, normal size torso just short arms and legs, not in proportion. long bones don’t grow very well but the flat bones grow just fine.
  2. 50% is inherited the other 50% is spontaneous.
90
Q

As a general rule of thumb: why have really nasty recessive genetic diseases survive in the population?

A

Because the carriers have some kind of a benefit.

91
Q

What advantage does a carrier of sickle cell anemia have?

A

If you have one sickle and one normal gene you’re going to be okay. You may have a mild problem in extreme conditions. If you have the trait then you are protected against malaria which was way way way way useful in Africa. Parts of Africa have more than 50% of the population as carriers for sickle cell anemia because it was more survivable than malaria.

92
Q

What is the defect in CF?

A

Chloride transporter most important in the lungs affects the movement of water cilia gets dry and you cant get it out.

93
Q

Do females use both of their X’s?

A

No. In utero fairly early on around week 2, cells will go around and individually decide to turn one of the other off. We are a mosaic, half the maternal X on and have the paternal X on. There is a small part of X that is turned on everywhere both Xs.

94
Q

Do we use all of our genes? How so? What happens to them?

A
  1. No.
  2. We get two copies of everything but they are turned off.
  3. We don’t use them but we pass them on to our offspring.
95
Q

What is the name of the process by which we turn things off? Will our offspring keep these off? What does this result in?

A
  1. Methylation (methylate cytosine)
  2. They could turn them back on.
  3. Generation skipping phenomenon.
96
Q

The loss of methylation of genes occurs with what? And cayses what?

A
  1. Occurs with aging
  2. Cells forget that they aren’t supposed to make certain proteins and start expressing proteins it wasn’t supposed to which is just not useful
97
Q

What is notable about Prader-Willi syndrome and Angelman syndrome? Why does this happen?

A
  1. They are both a deletion of part of 15Q. The exact same chunk is deleted in both but they end up with completely different diseases, one if it is deleted form the father and one if it deleted from the mother.
  2. Because the expression of genes is different.

Pathophys (5 decks)

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