L24 Introduction to Diagnostic Cytogenetics Flashcards
Cytogenetics is the study of…
Chromosomes
In contrast to molecular genetics, cytogenetics looks at the…
Whole genome, rather than specific areas
Main techniques for cytogenetics are:
a) cell culture and microscopy
b) DNA extraction and PCR
c) SDS-PAGE
d) All of the above
a) cell culture and microscopy
The 3 main divisions of cytogenetics are…
- Constitutional cytogenetics (pre/post natal)
- Array cytogenetics (mostly diagnosis for children and adults)
- Cancer cytogenetics
After being blot-stained, gene rich regions of the chromosome appear…
Light
Cell culture steps
- Simulate cells to divide
- Arrest cells in metaphase
- Prepare slides
- Staining
- Analysis
The main reason for referral for array cytogenetics are(2)…
Abnormal phenotype or cognitive disability (e.g. failure to reach developmental milestones)
SNP array gives a…
Higher resolution
The higher resolution provided by a SNP array is useful in identifying…
William’s Syndrome, as only 1.5mb are missing (not visible on a karyotype)
Deletions of which size are too small to see on a karyotype?
a) < 1 mb
b) < 9 mb
c) < 5 mb
d) All of the above
c) < 5mb
5mb is roughly the smallest length of missing DNA that can be observed from a karyotype
FISH stands for
Fluorescent In-Site Hybridisation
SNP arrays replace the older…
Array CGH
FISH can detect…
Abnormalities too small to see under a microscope, known as microdeletions
Chromosome analysis of cancer cells…
Can influence treatment
Imatinib is a designer drug for the treatment of…
CML
prevents ATP from binding
