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Biol 207 > Lecture 6 > Flashcards

Lecture 6 Flashcards

1
Q

What are Alleles?

A

Different forms of a gene that exist at a locus

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2
Q

What is a Wild type allele?

A

The most commonly found allele in a population

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3
Q

What are the characteristics of a Variant of Mutant allele?

A

Different from wild type, may or may not adversely affect gene product, may or may not result in a detectable phenotype

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4
Q

What does Homozygous refer to?

A

Identical alleles are present on both homologous chromosomes

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5
Q

What is Heterozygous?

A

One alleles is wild type and the other is not

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6
Q

What is an Allelic series or Multiple Alleles?

A

The know mutant genes for a given gene plus its wild type allele

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7
Q

What are Homozygotes?

A

A cell or organism with identical genes of interest

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8
Q

What are Heterozygotes?

A

A cell or organism with one wild type copy and one mutant allele

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9
Q

What is is called when there is 2 mutant alleles that are different from each other?

A

Heteroallelic
Transheterozygous
Compund heterozygotes

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10
Q

What is Hemizygous?

A

A situation where a cell/organism has only one copy of a gene/locus/chromosomal region

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11
Q

What does Polygenic mean?

A

Involving multiple genes

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12
Q

What is does monogenic mean?

A

Traits controlled by one gene

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13
Q

What is Haplosufficiency?

A

One functional copy is sufficient for a wild phenotype

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14
Q

What is Haploinsufficiency?

A

When one functional copy is not sufficient for a wild type phenotype

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15
Q

What is codominance?

A

When two alleles in a diploid cell or organism show phenotypic effects

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16
Q

What is Hemoglobin A?

A

A tetramer

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17
Q

What is the difference between HbS and HbA?

A

There is a point mutation that encodes valine instead of a Glutamic acid at position 6 of the beta chain

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18
Q

What does having one copy of HbS do?

A

Provides some protection against malaria so there is a heterozygous advantage

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19
Q

What is complete dominance usually the result of?

A

Haplosufficiency

20
Q

What are the 3 main mechanisms that allow mutant alleles to be dominant?

A

Haploinsufficiency
Dominant negative effect
Gain of function effect

21
Q

What is the Dominant negative effect?

A

When the gene product from the mutant allele interferes with the gene product from the wild type, blocking the wild type function

22
Q

What is the Gain of function effect?

A

The mutant allele acquires a new property not present in a the wild type allele and this new property causes a phenotype

23
Q

What does an A morph refers to?

A

The complete loss of function of a gene

24
Q

What causes an A morph?

A

Any mutation that abrogates the function of a gene

25
Q

What are examples of class A morphs?

A
  • A missense point mutation that abolishes all functions of the protein
  • A nonsense point mutation yielding a truncated non-functional protein
  • Complete deletion of an entire gene
26
Q

What occurs in a Hypomorph?

A

The allele is still partially functional, but not at the level of the wild type gene

27
Q

What is an example of a cause of a Hypomorph?

A

Mutation in a regulatory element may cause reduced expression of a gene or a point mutation may reduce the activity of the gene product

28
Q

What are Porphyrias?

A

A group of diseases affecting heme production

29
Q

What happens if you have no heme?

A

It is lethal

30
Q

Why are patients who have Porphyria sensitive to light?

A

Because they accumulate high amounts of heme precursors that are cytotoxic

31
Q

What can help Porphyria?

A

The injection of heme or glucose

32
Q

What occurs in a Hypermorph?

A

A gene is active at a level higher than the wildtype gene

33
Q

What is an example of a Hypermorph?

A

A mutation in a regulatory element may increase the expression of the gene resulting in more protein. Alternatively a mutation in the coding region may cause the protein to be hyperactive, while protein levels are comparable to the wild type

34
Q

What is different about Hypermorphs?

A

The gene product did not gain a new property there is simply more of the normal gene product, or normal levels of the gene product with higher activity

35
Q

What occurs in a Neomorph?

A

The allele is active but has acquired a function that the wild type gene does not have

36
Q

What occurs in an Antimorph?

A

The allele is not only active but can override the function of the wild type allele in a heterozygous setting

37
Q

What do complementation test identify?

A

Mutation in different genes

38
Q

What are Mutations that Complement?

A

They are mutations that are mutant in different gene loci and are called non-allelic mutation

39
Q

What are Mutations that Fail to Complement?

A

Mutations that are mutant in the same gene and are called allelic mutation

40
Q

How are genetic mutations created?

A

Feed the male organism a chemical mutation

41
Q

What is the most common mutagen?

A

Ethylmethane sulfonate to create G to A and T to C transitions

42
Q

How does EMS work?

A

It removes the ability for a base pair to make a certain hydrogen bond which causes it to make a base pair with a different nitrogenous base

43
Q

What does EMS cause?

A

A point mutation

44
Q

What do Genetic Screen do?

A

Mutagenize animals to isolate new mutants

45
Q

What occurs if m1 and m2 are mutations of the same gene?

A

Then they would not posses a wild type copy of the gene and be m1/m2 so they fail to complement each other

46
Q

What occurs if m1 and m2 are mutations of different genes?

A

Then they would each possess a wild type copy of the gene and be m1/+;m2/+ so they complement each other

Biol 207 (14 decks)

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