Application of Molecular Biology to Medicine

Question 1

Name the 4 centromere localisations.

Answer 1

1. Metacentric
2. Sub-metacentric
3. Acrocentric
4. Telocentric

Question 2

G-banding produces a (Giemsa) stain that differentiates bands of what?

Answer 2

Euchromatin and heterochromatin

Question 3

G-banding of metaphase chromsomes is used to detect what abnormalities?

Answer 3

Aneuploidies, translocations and very large deletions

Question 4

FISH can be used to test for 22q del syndrome, Prader-Willi syndrome and Cri-du-chat. What chromosomes are affected in these?

Answer 4

Prader-Willi - Chr 15

Cri-du-chat - Chr 5

Question 5

QF PCR uses microsatellites to detect which chromosomal abnormalities?

Answer 5

Trisomies 13, 18 and 21