Deviations from Mendelian Genetics Flashcards

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1
Q

Calculating the number of possible genotypes in a population

A

Possible genotypes= [n(n+1)]/2

n= # of alleles

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2
Q

Incomplete dominance

A

Phenotype of heterozygote is intermediate to homozygotes

Ex- palomino horses (intermediate to chestnut and cremello)

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3
Q

Gene dosage and incomplete dominance

A

Homozygosity for functional allele causes 2 doses of gene product
Heterozygosity causes 1 dose (intermediate)
Homozygosity for nonfunctional allele causes no doses

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4
Q

Haplosufficiency

A
1 dose of gene product supports life
Autosomal recessive
Homozygous wt= healthy 
Heterozygous= healthy
Homozygous mutant= sick or dead
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5
Q

Haploinsufficiency

A

1 dose of gene product isn’t enough to support life
Homozygous wt= healthy
Heterozygous= sick or dead
Homozygous mutant= sick or dead

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6
Q

Essential gene

A

Gene that encodes a product that is required for life
When mutated, causes lethal phenotype
No complementary gene (no backup genes)

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7
Q

Lethal allele

A

Presence of this results in death

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8
Q

Recessive lethal

A

Need 2 copies of lethal allele to exhibit lethal phenotype

Most truly recessive lethals are lethal in utero (kill baby before it’s born)

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9
Q

Dominant lethal

A

Both homozygotes for allele and heterozygotes display lethal phenotype
Caused by a gain of function mutation or dominant negative mutation

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10
Q

Codominance

A

Heterozygote shows the phenotypes of both homozygotes simultaneously
Ex- roan horses (both red and white hairs)

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11
Q

Molecular explanation of codominance

A

Equally strong expressed gene products that don’t block or interfere with the cellular functions of each other

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12
Q

Pleiotropy

A

1 gene is responsible for multiple phenotypes

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13
Q

Selective sweeps

A

When 2 or more genes show strong linkage and 1 of the 2 genes has an allele that gives a selective advantage, the other allele tends to be inherited with the advantageous allele
“Genetic hitchhiking”

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14
Q

Polygenic trait

A

Trait that results from action by multiple genes

Most traits are these

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15
Q

Epistasis

A

1 gene masks the expression of another gene

Polygenic phenomenon

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16
Q

Recessive epistasis

A

Homozygous recessive genotype at locus A masks phenotypic expression at locus B
aaB- and aabb have same phenotype
9:3:4 phenotypic ratio

17
Q

Dominant epistasis

A

Presence of the dominant allele at locus A masks phenotypic expression at locus B
A-B- and A-bb have same phenotype

18
Q

Synthetic lethal and negative epistasis

A

2 mutations together cause the death of the organism
Mutation A or mutation B- alive
Mutation in both A and B- dead
B masks a and A masks b

19
Q

Molecular explanation of synthetic lethal/negative epistasis

A

Wild-type gene products are involved in complementary pathways (1 can no longer compensate for the other)

20
Q

Modifier gene

A

Alters the expression of a second gene

Can suppress or enhance phenotypic expression

21
Q

Norm of reaction

A

Range of potential phenotypes for a particular genotype

22
Q

Penetrance

A

The % of individuals with a particular genotype who show the expected phenotype

23
Q

Expressivity

A

Degree to which a phenotype is expressed

Severity of phenotype

24
Q

Position effect

A

Physical location of a gene can influence expression

Next to highly expressed areas- gene will be highly expressed

25
Q

Difference between incomplete dominance and incomplete penetrance

A

Incomplete dominance is based upon gene dosage

26
Q

Extranuclear genes

A

DNA found in mitochondria and chloroplasts
Examples: circular DNA, mtDNA (mitochrondrial DNA; encodes energy production), cpDNA (chloroplast DNA; encodes energy production through photosynthesis)

27
Q

Maternal inheritance

A

Mitochondria and mtDNA in egg cytoplasm are inherited in offspring
Phenotype of the offspring is determined by the genotype of the mother

28
Q

Determining phenotypic ratios in maternal inheritance

A

Phenotypic ratios in offspring are same as mother’s genotypic ratio