Mutation and Inheritance

Question 1

What is a mutation

Answer 1

A gene variant

Question 2

What is evolution dependent upon

Answer 2

Advantageous mutations/variants

Question 3

What is genetic disease the result of

Answer 3

Disadvantageous mutations/varaints

Question 4

What is a single nucleotide variant (SNV)

Answer 4

A change of one base pair to another

Question 5

What is a non coding SNV

Answer 5

A SNV outside of the protein coding region of a gene (intronic/intragenic)

Question 6

What is a protein coding SNV

Answer 6

An SNV that is inside the protein the coding region of a gene (exonic)

Question 7

Define synonymous

Answer 7

Does not change the amino acid

Question 8

Define non-synonymous

Answer 8

Changes amino acid

Question 9

Are synonymous or non-synonymous mutations rarer in the population and why

Answer 9

Non-synonymous due to their physical outcome decreasing the likelihood of the mutation being passed on as rare diseases are strongly selected against

Question 10

What is a deletion mutation

Answer 10

Removal of section of DNA

Question 11

What is an insertion mutation

Answer 11

An insertion of a section of DNA

Question 12

What is a frame shift mutation

Answer 12

A mutation that alters the triplets and is disruptive if it occurs in the coding region

Question 13

What are Gregor Mendel’s 3 laws

Answer 13

The law is segregation, the law of independent assortment, the law of dominance

Question 14

What is the law of segregation

Answer 14

Each individual contains two alleles e.g. maternal and paternal as we are a product of two genomes

Question 15

What is the law of independent assortment

Answer 15

Each allele is inherited independently of each other with no relationship between inheritance of chromosomes, so an individual ends up with a random mix of chromosomes

Question 16

What is the law of dominance

Answer 16

Recessive alleles will be masked by dominant alleles

Question 17

What are autosomal chromosomes

Answer 17

Non-sex chromosomes

Question 18

What is the frequency of rare genetic diseases in the population

Answer 18

<0.0005%

Question 19

What is the frequency of common genetic diseases in the population

Answer 19

> 1%

Question 20

Are rare or common genetic diseases more likely to be familial

Answer 20

Rare

Question 21

When does rare genetic disease onset

Answer 21

Manifests early in life and is usually catastrophic

Question 22

What is the difference in the cause of rare and common disease

Answer 22

Rare is purely genetic while common is both environmental and genetic

Question 23

Which type of disease is typically monogenic

Answer 23

Rare disease

Question 24

Which type of disease is typically polygenic

Answer 24

Common disease

Question 25

What is the Hardy-Weinberg equilibrium

Answer 25

Genotypes within a population will reach an equilibrium through random mating, so variants and allele frequencies follow a predictable pattern assuming no selection

Question 26

What is Hardy-Weinberg dis-equilibrium

Answer 26

The genotype distribution becomes skewed or in disequilibrium if there is a selection pressure against an allele in the population

Question 27

What is a scaled analysis

Answer 27

Analysis of millions of variants at a time where each is assessed for association with a disease and given a statistical link (p value) to being affected

Question 28

What is nutrigenomics

Answer 28

Genome wide association (GWAS) used to locate variants associated to. ‘wellness’ e.g.variants that affect ability to metabolise vitamins that may put individuals at more or less of a risk if vitamin associated disease