L14: Population Genetics

Question 1

What is population genetics?

Answer 1

Studying genetic variables within & between groups of individuals of the same species

Question 2

Define a population

Answer 2

A group of individuals belonging to the same species that live in a define geographic area

Question 3

Define gene pool

Answer 3

All alleles present in a population

Question 4

5 ways allele frequencies in a population can be altered by

Answer 4

1) Natural selection
2) Mutation
3) Migration
4) Genetic Drift
5) Founder effects & genetic bottlenecks

Question 5

What are differences between human populations used for?

Answer 5

• Identify how different populations have arisen
• Study genetic differences between populations to identify genes

Question 6

What does the Hardy-Weinberg Equation describe the relationship between?

Answer 6

Allele frequencies & genotype frequencies in a population under ideal conditinos

Question 7

5 assumptions of the Hardy Weinberg Equation

Answer 7

1) Large population size
2) Random mating
3) No natural selection
4) No migration
5) No mutation

Question 8

Equation for a single gene with 2 alleles (A & a)

Answer 8

p+q=1

Question 9

Hardy Weinberg Equation

Answer 9

p^2 + 2pq + q^2 = 1

Question 10

What does genetic drift refer to?

Answer 10

Random fluctuations in allele frequencies, especially in small populations

Question 11

How does genetic drift affect allele frequencies in small populations?

Answer 11

It causes random allele fluctuations, altering genetic variation

Question 12

When does the founder effect occur?

Answer 12

When a small group of individuals establishes a new population, leading to higher frequencies of certain alleles

Question 13

What does founder effect + genetic drift result in?

Answer 13

High frequencies of autosomal recessive disorders

Question 14

Symptoms of the Ellis-Van Oreveld Syndrome

Answer 14

Autosomal recessive skeletal dysplasia characterised by short limbs, short ribs

Question 15

What is consanguineous mating?

Answer 15

Mating between related individuals

Question 16

What role does consanguineous mating play in the incidence of inherited genetic disorders?

Answer 16

It increases the likelihood of inheriting recessive alleles

Question 17

What factors contribute to the high incidence of genetic disorders in the Old Order Amish population?

Answer 17

The founder effect and genetic drift

Question 18

What are autosomal recessive disorders, and how do they differ from dominant disorders?

Answer 18

They require two mutated gene copies, while dominant disorders need only one

Question 19

When does genetic bottlenecks occur?

Answer 19

Occurs when a large population is significantly reduced in size by natural disaster

Question 20

Define phylogenetics

Answer 20

Study of evolutionary relationships using DNA sequences

Question 21

What is complete achromatopsia?

Answer 21

Total colour-blindness & difficulty seeing in daylight

Question 22

Does closely related species have more SIMILAR/DIFFERENT DNA sequences?

Answer 22

similar

Question 23

Does distantly related species have more SIMILAR/DIFFERENT DNA sequences?

Answer 23

different

Question 24

How does the structure of a phylogenetic tree represent relationships among Y-chromosomal haplogroups?

Answer 24

It illustrates evolutionary relationships inferred from shared SNPs

Question 25

What is the importance of screening cancer patients for mutated genes?

Answer 25

To inform treatment decisions based on the mutated genes

Question 26

What is phenylketonuria (PKU), and how is it treated?

Answer 26

A genetic metabolic condition impacting phenylalanine processing, managed via dietary restriction

Question 27

How do phylogenetic trees help in understanding human evolution?

Answer 27

By illustrating genetic relationships and migration patterns

Question 28

What is the relevance of studying Y-chromosome haplogroups in understanding human ancestry?

Answer 28

They help trace paternal lineages and understand the relationships between human populations

Question 29

How can the Hardy-Weinberg law be used to calculate genotype frequencies?

Answer 29

Based on allele frequencies using the equation p^2 + 2pq + q^2 = 1

Question 30

What are Y haplogroups and what do they indicate about human migration?

Answer 30

Branches of the Y-chromosome tree defined by SNPs, tracing human migration routes

Question 31

How does migration influence the gene pool of a population?

Answer 31

It introduces or removes alleles in the population

Question 32

What advancements in genomic medicine are expected to improve patient diagnosis and treatment outcomes?

Answer 32

Tailored screening based on individual genetic profiles

Question 33

What does the term "evolutionary clock" refer to in the context of DNA changes?

Answer 33

The accumulation of DNA changes at a constant rate over time

Question 34

The accumulation of DNA changes at a constant rate over time

Answer 34

Sharp reduction in population size leading to a loss of genetic diversity

Question 35

What is the aim of the NHS Genomic Medicine Service regarding whole genome sequencing?

Answer 35

To offer whole genome sequencing as part of routine care

Question 36

What is the role of mutation in creating new alleles within a population?

Answer 36

Mutation introduces new alleles into a population

Question 37

How does non-random mating lead to an increase in genetic diseases caused by recessive alleles?

Answer 37

It increases homozygous pairings for recessive alleles