Genome Analysis in Practice

Question 1

Point mutations can be detected via DNA sequencing. Give three examples of DNA sequencing techniques.

Answer 1

Sanger sequencing
Next generation sequencing
Allele-specific sequencing

Question 2

What type of DNA sequencing is only capable of looking at one gene at a time?

Answer 2

Sanger sequencing

Question 3

Sanger sequencing can be used to look at a single gene, several genes at once, the exome or the genome. T/F?

Answer 3

False - This describes next generation sequencing. Sanger sequencing can only look at one gene at a time.

Question 4

Give two examples of techniques which can be used to detect submicroscopic duplications and deletions

Answer 4

MLPA

Chromosomal micro-array

Question 5

Via which technique can aneuploidies be rapidly detected?

Answer 5

QF-PCR

Question 6

What is an aneuploidy?

Answer 6

The presence of an abormal number of chromosomes which is not a multiple of 23

Question 7

How does the technique of MLPA work to detect submicroscopic duplications and deletions?

Answer 7

PCR based method which targets a group of specific known chromosomal loci where there might be a deletion

Question 8

Give two examples of chromosome analysis methods

Answer 8

Karyotyping

FISH

Question 9

How does the technique of FISH work to examine chromosomes?

Answer 9

Uses a specific DNA probe which binds to one location on a chromosome

Question 10

If the position of a submicroscopic deletion or duplication is known, then what techniques can be used to identify these?

Answer 10

FISH

MLPA

Question 11

If the position of a submicroscopic deletion or duplication is not known, then what techniques can be used to identify these?

Answer 11

Chromosomal micro-array