MG: lec 3

Question 1

genome

Answer 1

entirety of individual’s genetic material

Question 2

Exome

Answer 2

The coding regions only (code for proteins)

Question 3

Percentage of genetic material that consists of the exome

Answer 3

1-2%

Question 4

estimation of the number of genes in humans

Answer 4

20 000 to 25000 genes

Question 5

Define genes

Answer 5

sequences of DNA that code for:
- RNA
- proteins

Question 6

What does an error in a gene consist of?

Answer 6

A mutation, while will often lead to a genetic disease that is recognizable

Question 7

When does splicing occur?

Answer 7

During RNA processing
- intron sequences are removed
- exon sequences are spliced together

Question 8

What does splicing produce?

Answer 8

mature mRNA

Question 9

What does facultative heterochromatin contain?

Answer 9

• variable inactivation of certain DNA regions
• activation depends on cell types because of epigenetic mechanisms

Question 10

What is an example of facultative heterochromatin?

Answer 10

The Barr Body

Question 11

When do X chromosomes get inactivated?

Answer 11

• randomly in each cell
• during embryonic development of a female

Question 12

Define SNP

Answer 12

single nucleotide polymorphism: when a single nucleotide presents as a different one depending on the population