Genetics I Flashcards

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1
Q

Why study genetics?
(evolutionary genetics and complex traits)

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2
Q

Decreased cost per genome has changed the landscape in GENETICS and MEDICINE

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3
Q

From 1000 genomes to the pangenome: efforts to capture human diversity

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3
Q

Evolutionary Genetic lectures - themes

A
  • Genetic variation
  • Genetic constitution of an individual and population
  • Allele and genotype frequencies
  • Evolutionary forces
  • Relationship between allele and genotype frequencies in the absence of evolutionary forces (Hardy-Weinberg Equilibrium)
  • Reconstructing Evolutionary History
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3
Q

What is Evolutionary Genetics?

A
  • Study of how genetic variation leads to evolutionary change
  • Genetics of evolution (microevolution)
  • Darwin - descent with modification
  • Today - genetic change over time
  • Genetics of variation
  • Within & between organisms
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  • Population genetics
  • Study of the patterns of genetic variation within and between populations.
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4
Q

Biological variation within species

A

Intra-species differences = genetic
variation (+/- environment)
Other species also exhibit intra-species variation

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5
Q

Genetic variation is the catalyst for evolution

A
  • In genetic terms
  • source of variation is Mutation
    = change in the DNA, producing an altered form (allele)
  • Evolution is a change in allele (variation) frequency over time
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6
Q

Biological blueprint - DNA
Sugar-phosphate backbone with paired bases forms the double helix structure

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7
Q

Types of point mutations

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8
Q

Genetic transfer of information

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9
Q

Forms of genetic variation

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10
Q
A

Redundancy in the Ge
Side tode means not all SNPs
within exons change the amino acid

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11
Q
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12
Q
A

A single SNP can have a major impact on
phenotype

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13
Q
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14
Q

Coding material (exons) only makes up a small proportion of our genome

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14
Q

Non-coding variation san affect phenotype

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15
Q

Gene structure more complex than just coding sequence (exons)

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16
Q

How much human genetic variation exists?

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17
Q
A

We will explore later in the unit how to use genetic variation data to predict susceptibility to specific diseases, ancestry, and the best medication for you (personalised medicine).

17
Q

Genetic constitutions

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18
Q

Genotype frequencies

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19
Q

How to calculate allele frequency?

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19
Q
A

The allele frequency is the basic measure of the genetic constitution of a population
The allele frequency is also the basic measure of evolutionary change

20
Q

Terms to remember

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  • Allele - alternative form (variant at a locus)
  • Genotype - genetic constitution of an individual (homozygote/heterozygote)
  • Phenotype - trait determined by genotype (+/- environment)
21
Q
A
22
Q

Summary

A
  • Genetic variation exists within & between organisms and is
    the catalyst for evolution
  • Evolution is a change in the allele frequency over time
  • Allele frequency is the basic measure of the genetic constitution of a population and evolutionary change

NEXT SESSION
Changes in allele frequency can occur due to evolutionary
forces