Week 6

Question 1

What is genetic basis to a disease?

Answer 1

Inherited

Acquired

Question 2

What is an example of genetic changes?

Answer 2

Cancer

Question 3

What is the consequence of finding genetic basis?

Answer 3

Define the disease

Question 4

What is risk factor ?

Answer 4

Characteristic or exposure of an individual that increases the likelihood of developing a disease or injury

Genetic molecular changes

Question 5

What is genetic testing?

Answer 5

Medical test that looks at changes in chromosome, genes or proteins

Question 6

What are examples of genetic testing?

Answer 6

Confirm a suspected genetic condition
Determines a person’s chance of developing or passing on a genetic disorder
Determines whether a person is a carrier of a certain genetic mutation - inherited by any children they have

Diagnostic - looking at families
Pre-symptomatic
Carrier-status
Prenatal diagnosis

Question 7

What is not always diagnostic?

Answer 7

Phenotypic observations and tests

Question 8

What’s mostly hidden?

Answer 8

Genetic risk factors

Question 9

What do we need to identify ?

Answer 9

Underlying pathology

Question 10

What is an example of an inherited disease?

Answer 10

Sickle cell disease

Question 11

What occurs in West Africa?

Answer 11

Prevalence of carrier frequency can be very high

1 in 20 people carrying sickle cell disease gene

Question 12

What is progeria?

Answer 12

Rare genetic condition that causes a person to age prematurely

Question 13

What are rare diseases?

Answer 13

Collectively are common

Question 14

What is Factor V Leiden?

Answer 14

Variant of human factor V
Cause an increase in blood clotting 
Mutation; protein C (anticoagulant protein) is not able to bind normally to factor V - hypercoagulable state 
Amino acid substitution in that gene 
1 in 20 if people are carrying 
Increases the risk of thrombosis

Question 15

What is allele frequency?

Answer 15

how common is the genetic variant within the population,

Question 16

What are genetic markers?

Answer 16

a marker tags a piece of DNA and can be used to track genes in families or populations

Question 17

STR [short tandem repeat]

Answer 17

a little stretch of DNA sequence CACACA that expands and shrinks and is usually in anonymous region of the genome

Highly variable in length

Question 18

SNP: single nucleotide polymorphism

Answer 18

single nucleotide one base in the DNA

- Polymorphic – the frequency in the population is > 1%

Question 19

TERT gene

Answer 19

telomerase reverse transcriptase

Question 20

Functional consequence synonymous

Answer 20

it means it is in the coding sequence of that gene but does not change the amino acid, its effect is pretty low

Question 21

Global MAF

Answer 21

minor allele frequency – it is saying 11% of allele in the population are T

Question 22

TT

Answer 22

least common genotype – it is the minor allele

Question 23

Testing for disease association

Answer 23

1. Determine the allele frequency of a SNP in a group of cases and compare it to the allele frequency in controls
2. Are the allele frequencies significantly different?
3. If yes - SNP tested is associated with disease - causative/protective

Question 24

What is LPP associated with?

Answer 24

Coeliac disease

Question 25

Through consanguineous marriage

Answer 25

the mutation homozygous and causes an autosomal recessive disease

Question 26

SNP

Answer 26

Most common type of genetic variant among people