complex diseas pharma

Question 1

what is a Mendelian Trait

Answer 1

Controlled by single gene

• Inheritance follows Mendel’s principles

Question 2

Complex Trait

Answer 2

Controlled by multiple gene + the effect of environment
• Hair, skin, eye colour
• Height, weight
• Personality

Question 3

Single Nucleotide Polymorphisms: SNPs

Answer 3

– DNA sequence variations that occur

when a single nucleotide is changed

Question 4

association analysis

Answer 4

association analysis just deals with the occurrence of one item with another.

Question 5

what is a risk allele

Answer 5

an allele that is most frequently observed with people with a disease.

allele causing disease/all number of alleles

Question 6

cvd risk factors

Answer 6

modifiable and non modifiable e.g. age gender genetics

Question 7

Heritability

Answer 7

How much of our phenotype differences is due to genetics? 
Heritability is the proportion of
variation in the population explained by
genetics and inheritance rather than
environmental factors

Question 8

how

Answer 8

➢ Compare MZ and DZ twins (monozygotic and dizygotic

Question 9

how much dna do MZ and DZ share

Answer 9

MZ 100

DZ 50

Question 10

equation of heritability

Answer 10

H2=2(rMz-rDz) r is corellation co efficient

Question 11

Missing heritability

Answer 11

problem is the fact that single genetic variations cannot account for much of the heritability of diseases, behaviors, and other phenotypes

Question 12

causes

Answer 12

Rare variants (SNPs)
• Low frequency variants with intermediate effect
•Interactions
• Miscalculated estimation of heritability
•Diagnosis (accuracy and precision)

Question 13

Pharmacogenetics

Answer 13

The study of variability in drug response due to genetic

differences

Question 14

Personalised Medicine

Answer 14

Tailoring treatment to patients depending on specific characteristics
of their disease