Lec 14: Clinical Cytogenetic Diseases

Question 1

What are the names of the long and short arms of the chromosome?

Answer 1

p = short arm
q = long arm

Question 2

What are the names of the chromosome if the centromere is:
in the middle?
off center?
near one end?

Answer 2

In the middle = metacentric
off center = sub-metacentric
near one end = acrocentric

Question 3

What are the types of DNA that are noncoding where variable number of tandem repeat polymorphisms can arise?

Answer 3

Satellite DNA (centromeric)
Minisatellite DNA (telomeric)
Microsatellite DNA (dispersed; hotspot for mutations)

Question 4

What is it called when there are large differences in noncoding DNA?

Answer 4

Chromosomal polymorphisms
and
large scale sequence variants

Question 5

What is the most abundant type of genomic material, and what are the 2 subtypes?

Answer 5

Transposable elements make up 45% of the genome;
LINE1 and Alu sequences are examples
Alu is the most abundant