Chromosome, DNA & Clinical Genomic analysis

Question 1

What are point mutations?

Answer 1

Single base misprint (e.g. T instead of A)

Question 2

Which DNA analysis methods detect point mutations?

Answer 2

DNA sequencing - Sanger or NGS

ARMS

Question 3

What are sub-microscopic duplications/deletions?

Answer 3

Small duplication/deletion mutation involving less than 5million base pairs

Question 4

Which DNA analysis methods detect sub-microscopical duplications/deletions?

Answer 4

MLPA

Array CGH

Question 5

What are aneuploidies?

Answer 5

Trisomies (i.e. where there is an extra chromosome)

Question 6

Which chromosome analysis method RAPIDLY detects aneuploidies?

Answer 6

QF-PCR

Question 7

The chromosome analysis method, FISH, detects which type of mutation?

Answer 7

Sub-microscopical deletions/duplications

Question 8

What is a SNP?

Answer 8

Single nucleotide polymorphism = very common and don’t cause disease