Cytogenetics I

Question 1

__________ is a molecular test that identifies sub-microscopic genetic gains and losses.

Answer 1

chromosomal microarray (CMA)

Question 2

ALL

Answer 2

beta-cell acute lymphoblastic leukemia

Question 3

CML

Answer 3

chronic myelogenous leukemia

Question 4

APML

Answer 4

acute promyeloid leukemia

Question 5

Name 3 general probes used in FISH.

Answer 5

1) centromere
2) locus specific
3) fusion or dual fusion

Question 6

What is the cen probe used for?

Answer 6

enumeration- leukemias

Question 7

What is the LSI probe used for?

Answer 7

deletion- leukemias- p53

Question 8

What is the F and DF probe used for?

Answer 8

translocation- leukemias

Question 9

_______ consist of synthetic DNA oligomers ‘spotted’ onto a ‘platform’ (bead chip) using robotic technologies.

Answer 9

SNP chromosomal microarrays

Question 10

The SNP platform provides information on _______ and on runs of _______, possibly revealing autosomal recessive conditions.

Answer 10

intensity; homozygosity

Question 11

CMA testing frequently reveals _____ that cannot be seen by standard cytogenetics and light microscopy.

Answer 11

duplications or deletions of genetic material

Question 12

How many CNVs are in the human population?

Answer 12

35,000

Question 13

How many CNVs does an individual carry?

Answer 13

10-20