extensions of Mendelian Inheritance Flashcards

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1
Q

wild type alleles

A

most prevalent version of a gene in wild populations in which the proteins function normally and promote reproductive success of an organism

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2
Q

in large populations, there may be more than 1 common allele considered wild-type

A

polymorphism- inheritance of a trait controlled by a single genetic locus with 2 alleles

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3
Q

mutant alleles

A

are less common version of a gene that can be due to random mutations that occur in DNA or due to mutations induced by scientists

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4
Q

difference between wild-type and mutant alleles

A

Wild-type is the normal phenotype of an organism found in natural populations, whereas mutant alleles have an abnormal phenotype that differs from the normal.

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5
Q

3 types of dominant alleles

A

gain of function, dominant negative, and haplo-insufficiency

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6
Q

penetrance

A

proportion of individuals that have a specific allele as well as the associated phenotype

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7
Q

incomplete penetrance

A

when an allele does not completely penetrate into the population
Ex: 40% penetrant allele = 40% of pop. with allele will show phenotype, where are the other 60% will NOT show phenotype but will carry allele

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8
Q

incomplete dominance

A

form of intermediate inheritance in which one allele for a specific trait is not completely expressed over its paired allele, results in a third phenotype of a combination of the phenotypes
Ex: red flower (R1R1 ) x white flower (R2R2) = pink flower (R1R2)

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9
Q

codominance

A

multiple alleles being expressed, each allele encodes a functional protein but in a different sequence
Ex: ABO blood type in humans

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10
Q

overdominance

A

where a heterozygote produces a phenotype more extreme/better adapted than that of the homozygote
Ex: sickle cell anemia, heterozygotes have a higher resistance to malaria and sickle cell than their homozygous counterpart

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11
Q

incomplete dom. vs. codominance vs. over dominance

A

incomplete is a mixture of the 2 alleles, codominance when both alleles are expressed together in offspring, and overdominance is when the heterozygote phenotype is better than their homozygous counterpart.

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12
Q

how can the 2 protein variants produce a favorable phenotype in the heterozygote?

A

disease resistance, homodimer formation, variation in functional activity

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13
Q

sex-influenced traits

A

when an allele is dominant in 1 sex, but recessive in the next
Ex: male patterned baldness

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14
Q

sex limited traits

A

are traits that occur in only one 1/2 of the sexes, both sexes have genes. Is responsible for sexual dimorphism

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15
Q

lethal alleles

A

is a mutation in an essential gene leading to a non-function protein product leading to a lethal phenotype

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16
Q

essential genes

A

are genes that are necessary for an organism

17
Q

conditional lethal alleles

A

exert effects only under certain conditions

Ex: drosophila are temperature sensitive, large will not survive under certain temp

18
Q

semi-letal alleles

A

can cause death of individuals with the affected genotype, however not all will die

19
Q

pleiotropy

A

when single gene has multiple effects on the phenotype of an organism

20
Q

why does pleiotropy happen?

A

gene product has multiple uses in cellular function, gene is expressed in different cell types, or the gene is expressed during different stages of development

21
Q

epistasis

A

inheritance pattern in which allele of 1 gene masks the phenotypic effects of the alleles of a different gene
Ex: Lab coat color

22
Q

complementation

A

2 different parents that express the same or similar recessive phenotypes produce offspring with a wild-type genotype

23
Q

modifying genes

A

phenomenon in which an allele of 1 gene modifies the phenotypic outcome of the alleles of a different gene

24
Q

gene redundancy

A

pattern in which the loss of function in a single gene has no phenotypic effect, but loss of function of 2 genes has an effect

25
Q

extranuclear inheritance

A

inheritance pattern of traits not in nuclear genes (genes where DNA is located in the cell nucleus)

26
Q

how are chloroplasts and mitochondria inherited

A

are commonly inherited from the female parent (via edge cells)

27
Q

genomic imprinting

A

imprinted genes express one allele (maternal or paternal), the other is silenced.

28
Q

recessive alleles

A

typically produce less function proteins, proteins tend to be defective and the organism produces lower levels of that functional protein

29
Q

dominant alleles

A

effect phenotype with just one copy, they are less common in natural systems