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Genetics > Ch. 4 > Flashcards

Ch. 4 Flashcards

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1
Q

What two inheritance patterns does Mendelian Inheritence obey?

A
  1. Law of segregation
  2. Law of independent assortment
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2
Q

What are the prevalent alleles in a population called?

A

Wild-type alleles

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3
Q

What is the phenomenon where more thane one wild-type allele occurs within large populations?

A

Genetic polymorphism

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4
Q

What are the alleles that have been altered in a population called?

A

Mutant alleles

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5
Q

Mutant alleles are often defective and lack their ability to express a ____

A

Functional protein

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6
Q

What disease causes the inability to metabolize phenylalanine in affected individuals?

A

Phenylketonuria (PKU)

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7
Q

What is the protein that is produced by the normal gene for Phenylketonuria

A

Phenylalanine hydroxylase

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8
Q

What disease causes lack of pigmentation in skin, eyes, and hair in affected individuals?

A

Albinism

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9
Q

What is the protein that is produced by the normal gene for Albinism

A

Tyrosinase

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10
Q

What disease causes a defect in lipid metabolism and leads to paralysis, blindness, neurological defects, and an early death.

A

Tay-Sachs

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11
Q

What is the protein that is produced by the normal gene for Tay-Sachs disease

A

Hexosaminidase A

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12
Q

What disease causes an inability to regulate ion balance across epithelial cells and leads to thick mucus build up

A

Cystic Fibrosis

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13
Q

What is the protein that is produced by the normal gene for Cystic Fibrosis

A

Chloride transporter

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14
Q

What are the three explanations for why dominant inherited diseases are less common?

A
  1. haploinsufficiency
  2. gain-of-function
    3.dominant-negative
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15
Q

What is a mutant loss of function allele where the heterozygote does not make enough product to give the wild type phenotype?

A

Haploinsufficiency

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16
Q

What is the protein encoded by a mutant gene is changed so it gains a new or abnormal function?

A

Gain-of-function allele

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17
Q

What is it when a protein encoded by the mutant gene acts antagonistically to the normal protein?

A

Dominant-negative allele

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18
Q

What is the term where the dominant allele does not always penetrate into the phenotype of a heterozygous individual?

A

Incomplete penetrance

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19
Q

Phenotype expressivity can range because of what two factors?

A
  1. environment
  2. other modifier genes
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20
Q

What is the term where the heterozygote displays an intermediate phenotype?

A

Incomplete dominance

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21
Q

What is the term where the heterozygote has a greater reproductive success compared to both the corresponding homozgotes?

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A

Overdominance (heterozygote advantage)

22
Q

What is an example of incomplete dominance?

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A

Snap dragons display pink heterozygote

23
Q

What is an example of incomplete penetrance?

24
Q

What is an example of overdominance

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A

Sickle cell disease heterozygote advantage

25
What are the three possible explanations for overdominance at the molecular level?
1. disease resistance 2. homodimer formation 3. variation in functional activity
26
Some proteins can be formed of two subunits of the same type of gene, but different alleles, what is this called?
Homodimer
27
What is an example of a gene that has multiple alleles?
Blood typing ABO
28
How is blood type determined?
By the antigen on the surface of RBC's
29
What is the term where two dominant alleles can be expressed for one genotype?
Codominance
30
How are X-linked genes characterized?
Hemizygous, predominatly impacting males, only one copy
31
How are Y-linked genes characterized
Holandric genes, transmitted onyl from father to son
32
What is the term where an allele is dominant in one sex but recessive in the opposite sex?
Sex-influenced inheritance
33
Are sex influenced traits autosomal T/F
True
34
Sex influenced traits is a phenomenon seen in what genotype?
Heterozygotes
35
What is the term of inheritance where traits occur in only one of the two sexes
Sex-limited inheritance
36
In sex limited inheritance, genes are controlled by what?
Sex hormones or sexual development pathways
37
What kind of allele has the potential to cause death in an organism?
A lethal allele
38
Lethal alleles are usually inherited in what inheritance pattern?
Recessive
39
Lethal alleles usually result form mutations of _____ genes
Essential
40
What is an example of a lethal allele
The manx cat dominant homozygote dies in early embryonic development
41
What is an example of a dominant lethal allele in human diseases?
Huntington disease
42
What are lethal alleles that may kill an organism only when certain environmental conditions prevail?
Conditional lethal alleles
43
What are lethal alleles that kill some individuals in a population but not all of them?
Semi lethal alleles
44
Multiple effects of a single gene on the phenotype of an organism is called what?
Pleiotropy
45
What is an inheritance pattern in which the alleles of one gene mask the phenotypic affects of the alleles of a different gene?
Epistasis
46
What is the phenomenon in which two parents that express the same or similar recessive phenotypes produce offspring with a wild-type phenotype?
Complementation
47
What is the phenomenon in which an alleles of one gene modifies the phenotypic outcome of the alleles of a different gene?
Gene modifier effect
48
What is the pattern in which the loss of function in a single gene has no phenotypic effect, but the loss of function in two genes has an effect.
Gene redundancy
49
What is the geneticist designed technique to directly generate a loss of function allele?
Gene knockout
50
Why are gene knockouts used?
Allows scientist to understand the impacts of a certain gene
51
What is a gene that arose from a gene duplication event in an organism?
Paralog

Genetics (6 decks)

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