Week 2

Question 1

What is Colchicine used for?

Answer 1

It is a spindle apparatus inhibitor that stops cell

division in metaphase.

Question 2

What is Giemsa?

Answer 2

A stain. G-banding.

Question 3

Does Heterochromatin de-condense?

Answer 3

No! Heterochromatin is condensed even in interphase!

Question 4

Dominant negative mutations are common in what type of protein?

Answer 4

mutimeric proteins

Question 5

What is Phytohaemagglutinin (PHA) used for?

Answer 5

It is a growth inducer for white blood cells.

Question 6

Which test would I use to reduce false-positive results

Answer 6

A specific test. helps prevent overdiagnosis

Question 7

With regards to a karyotype, what does (t) mean?

Answer 7

Translocation, reciprocal

Question 8

Where are most variations in the DNA sequence found

Answer 8

heteronuclear DNA

Question 9

Cockyane syndrome is caused by what?

Answer 9

loss of NER and unrepaired thymine-thymine dimers

Question 10

Which is the most common trisomy and what does it result in?

Answer 10

16. Usually result in spontaneous abortion.

Question 11

With regards to a karyotype, what does (der) and (rob) mean? What type of chromosome can this effect?

Answer 11

Robertsonian Translocation is for Acrocentric chromosomes only

Question 12

How is Klinefelter Syndrome treated?

Answer 12

Treatment with androgens

Question 13

How is Chronic Myelogenous Leukemia (CML) diagnosed and what are symptoms of the initial phase?

Answer 13

Conformation of BCR-ABL fusion, leukocyte alkaline phosphatase indicative. Enlarged spleen and sometimes sternum tenderness.

Question 14

What is Mosaicism?

Answer 14

When some cells contain a different set of chromosomes compared to other cells of the same body

Question 15

Leading strands goes in which direction

Answer 15

towards the replication fork

Question 16

Which test would I use to reduce false-negative results

Answer 16

A sensitive test. catches all cases

Question 17

What does 45XX,rob (14,21) mean?

Answer 17

An unbalanced female with 45 chromosomes with a Robertsonian translocation. Chromosome 14 and 21 have fused and are now 1 chromosome.

Question 18

What are the 3 types of repetitive DNA

Answer 18

tRNA gene sequence, LINE (long interspersed nuclear element and SINE (Short interspersed nuclear element).

Question 19

What is the treatment for CML?

Answer 19

tyrosine kinase inhibitors

Question 20

What is a barr body? How does it look under a microscope?

Answer 20

a small, densely staining structure in the cell nuclei of female mammals, consisting of a condensed, inactive X chromosome.

Question 21

What are the Last phase symptoms of CML?

Answer 21

Last phase: “blast-crisis”, bleeding and infections related to bone marrow failure

Question 22

Which trisomies are compatible with life?

Answer 22

Trisomy 13, 18, 21, and Trisomy of sex chromosomes.

Question 23

Lagging strand goes towards the?

Answer 23

Origin of replication

Question 24

What is (47,XXY)

Answer 24

Klinefelter Syndrome

Question 25

What is a dominant mutation?

Answer 25

Dominant mutations must cause their effect in single allele dosage. The bad allele poisons the good one

Question 26

What are the accelerated phase symptoms of CML?

Answer 26

fever, bone pain, and splenomegaly

Question 27

With regards to a karyotype, what does (iso) mean?

Answer 27

Isochromosome. A chromosome with two identical arms

Question 28

What is trypsin used for?

Answer 28

It is a protease used to make banding