Week 2 Flashcards
What is Colchicine used for?
It is a spindle apparatus inhibitor that stops cell
division in metaphase.
What is Giemsa?
A stain. G-banding.
Does Heterochromatin de-condense?
No! Heterochromatin is condensed even in interphase!
Dominant negative mutations are common in what type of protein?
mutimeric proteins
What is Phytohaemagglutinin (PHA) used for?
It is a growth inducer for white blood cells.
Which test would I use to reduce false-positive results
A specific test. helps prevent overdiagnosis
With regards to a karyotype, what does (t) mean?
Translocation, reciprocal
Where are most variations in the DNA sequence found
heteronuclear DNA
Cockyane syndrome is caused by what?
loss of NER and unrepaired thymine-thymine dimers
Which is the most common trisomy and what does it result in?
- Usually result in spontaneous abortion.
With regards to a karyotype, what does (der) and (rob) mean? What type of chromosome can this effect?
Robertsonian Translocation is for Acrocentric chromosomes only
How is Klinefelter Syndrome treated?
Treatment with androgens
How is Chronic Myelogenous Leukemia (CML) diagnosed and what are symptoms of the initial phase?
Conformation of BCR-ABL fusion, leukocyte alkaline phosphatase indicative. Enlarged spleen and sometimes sternum tenderness.
What is Mosaicism?
When some cells contain a different set of chromosomes compared to other cells of the same body
Leading strands goes in which direction
towards the replication fork
Which test would I use to reduce false-negative results
A sensitive test. catches all cases
What does 45XX,rob (14,21) mean?
An unbalanced female with 45 chromosomes with a Robertsonian translocation. Chromosome 14 and 21 have fused and are now 1 chromosome.
What are the 3 types of repetitive DNA
tRNA gene sequence, LINE (long interspersed nuclear element and SINE (Short interspersed nuclear element).
What is the treatment for CML?
tyrosine kinase inhibitors
What is a barr body? How does it look under a microscope?
a small, densely staining structure in the cell nuclei of female mammals, consisting of a condensed, inactive X chromosome.
What are the Last phase symptoms of CML?
Last phase: “blast-crisis”, bleeding and infections related to bone marrow failure
Which trisomies are compatible with life?
Trisomy 13, 18, 21, and Trisomy of sex chromosomes.
Lagging strand goes towards the?
Origin of replication
What is (47,XXY)
Klinefelter Syndrome
What is a dominant mutation?
Dominant mutations must cause their effect in single allele dosage. The bad allele poisons the good one
What are the accelerated phase symptoms of CML?
fever, bone pain, and splenomegaly
With regards to a karyotype, what does (iso) mean?
Isochromosome. A chromosome with two identical arms
What is trypsin used for?
It is a protease used to make banding
