Precision medicine - genetics

Question 1

How many genes are found in mitochondrial genome?

Answer 1

37 genes

Question 2

How is mitochondrial genome inherited?

Answer 2

Maternally inherited

Question 3

What are Mendelian disorders?

Answer 3

Monogenic diseases with clear inheritance pattern

Question 4

What are autosomal recessive traits and autosomal dominant traits?

Answer 4

Autosomal recessive traits: only affects homozygous gene pairs (+/+ or -/-)
Autosomal dominant traits: affects all carriers

Question 5

Who is mostly affected by X-linked and Y-linked diseases?

Answer 5

Males
Y-linked disease: only males have Y chromosome, all are affected by father
X-linked disease: males only have 1 X chromosome -> lack protective effect from the second X chromosome

Question 6

What does Hardy Weinberg Principle state? What are the 5 assumptions?

Answer 6

Allele frequencies in a population will remain constant from generation to generation in the absence of other evolutionary influences
Assumptions:
1. no selection
2. no mutation
3. no migration
4. large population
5. random mating

Question 7

What is somatic mutation testing used for?

Answer 7

Used before targeted therapy for cancer treatment

Purpose:
see what mutation the cancer tumour has -> whether there is a drug to treat the mutation

only a fraction (100-400) of the genome are sequenced as other parts are unlikely to be important in cancer development/no effective drugs to target those mutations

Question 8

Genetic screenings at 3 different time points for new-born

Answer 8

1. Pre-implantation
2. Pre-natal - foetal cell free DNA (cfDNA) in maternal plasma
3. Post birth