1: What causes diversity? Flashcards

1
Q

Define standing genetic variation

A

= The no. of alternative alleles for a gene at a given locus in the pop.

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2
Q

What is the level of standing genetic variation a predictor of?

A

The populations potential to evolve and adapt

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3
Q

What maintains diversity?

A

Sex
Ploidy
Balancing selection
- Heterozygous advantage
- Frequency-dependent selection

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4
Q

What do somatic mutations affect?

A

Individuals but NOT the pop.

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5
Q

What can germline mutations affect?

A

Germline mutations affect the whole pop.

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6
Q

Describe structural mutations

A

Changes happen at whole region level of chromosome

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7
Q

Deletion mutation

A

region deleted

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8
Q

Duplication mutation

A

region duplicated

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9
Q

Inversion

A

region flipped
= Limit recombination

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10
Q

Subsitution mutation

A

moved from one region to another

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11
Q

Translocation mutation

A

regions swap

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12
Q

Synonymous/silent mutations

A

codon changes but amino acid stays the same

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13
Q

Non-synonymous

A

amino acid is altered

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14
Q

Define missense mutations

A

change in single amino acid = alters protein function, reactivity etc.

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15
Q

What do frame shift mutations effect?

A

impacts every codon downstream from mutation

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16
Q

Describe the sex mutation bias

A

Sex bias: males generally have a higher mutation rate
Males produce more gametes so germline mutations are more common

17
Q

Define Independent assortment

A

Chromosomes randomly oriented in metaphase I → assortment of maternal + paternal copies is diff in the resulting gametes (Mendel’s Law)

18
Q

Define random fertilisation

A

Any sperm can fertilise any egg, so each zygote is a diff combo

19
Q

Define recombination

A

Shuffling of genetic material between maternal + paternal chromosomes during meiosis

20
Q

Give an example of heterozygous advantage

A

E.g Sickle Cell Anaemia
- Homozygous dominant = normal haemoglobin
- Heterozygous = sickle cell trait (minor health issues), malaria resistant
- Homozygous recessive = Severe sickle cell anaemia
- Heterozygote common in pop.s with high incidence of malaria

21
Q

What is frequency dependent selection?

A

the fitness of an allele changes depending on how common it is

21
Q

Describe positive frequency dependent selection

A

(strength in numbers)
Fitness & frequency + correlated
Fitness increases when alleles becomes more common

22
Q

Describe negative frequency dependent selection

A

(advantage in being rare)
Fitness & frequency negatively correlated
Fitness decreases when allele becomes more common