L3 Relationship Between Genotype And Phenotype Flashcards

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1
Q

The relationship between genotype and phenotype is affected by…

A
  • Penetrance and expressivity
  • pleiotropy and epistasis
  • environmental effects
  • complementation

( in addition to dominant/recessive relationship between alleles )

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2
Q

Linkage is the presence of genes…

A

On the same piece of DNA

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3
Q

Genetic maps map the genome using…

A

frequency of recombination to determine distance between genes

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4
Q

Dominance relationships can be either (3)…

A

Complete, incomplete or codominant

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5
Q

Pleiotrophy

A

When a single gene affects multiple unrelated characteristics

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6
Q

An example of pleiotrophy is…

A

Manx cats. The pleiotropic gene affects both tail and spinal development. Heterozygosity results in no tail, homozygotes do not survive

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7
Q

Epistasis

A

When one mutation hides or modifies the phenotype at another gene

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8
Q

The same genotype ( always / does not always ) lead to the same phenotype

A

Does not always

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9
Q

Penetrance is the degree to which…

A

A particular genotype, when present, results in the characteristic phenotype within a population

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10
Q

Penetrance is either…

A

Complete (100%) or incomplete (<100%)

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11
Q

In many diseases, the same gene mutation can result in a variety of symptoms in different individuals. This can be explained by variable…

A

Expressivity (or a spectrum of expression)

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12
Q

The difference between penetrance and expressivity is that…

A

Penetrance is how many show the trait at all, whereas expressivity is the degree and nature of the traits expression

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13
Q

Complementation

A

When different mutations at different genes partly or entirely cancel each other out if they cooccur

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14
Q

An example of environmental effects on phenotype is…

A

Siamese cats which have brown colour on the extremities because the protein responsible only works at lower than normal body temperature.

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15
Q

Recombination frequency =

A

( recombinants / total ) x 100

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16
Q

cM

A

centiMorgan (or more commonly map units, mu)

17
Q

If two genes are unlinked, when crossing a hybrid (F1) with a homozygous mutant type the offspring are expected to be…

A

50% parental, 50% recombinant

18
Q

When two genes are linked, we get…

A

More parental combinations (less recombination)

19
Q

The lower the frequency of recombination…

A

The closer the genes on a chromosome

20
Q

Genetic maps are not colinear with physical maps. This is because recombination…

A

Is not random- there are hotspots, which means physical distances doesn’t always correspond to cM distance shown by genetic maps

21
Q

Test crosses for 2 traits can be used to assess…

A

Gene linkage