WEEK 13: Genetic Testing Flashcards
(12 cards)
What is a PCR
a lab technique used to amplify specific DNA sequences
What does PCR involve and what is the result
it involves repeated cycles of heating and cooling to denature the DNA, anneal primers to target sequences & extend new DNA strands using a heat-stable DNA polymerase
it results in an increase in target DNA to make it easy to study and analyse
What applications is PCR used for
genetic testing, forensic analysis and cloning
What is chromosome microarray
a biological technique used to detect copy number variations, and other genetic abnormalities in a genome
What does CM involve, and what does it result in?
it involves hybridizing DNA samples to a microarray chip containing probes for specific chromosomal regions
allows identification of gains, losses and rearrangements in DNA sequences, providing detailed info regarding genetic imbalances
What is chromosomal microarray used for?
diagnosing geentic disorders
prenatal testing
cancer research
What is fluorescent In Situ Hybridisation?
a molecular biology technique used to detect and localise specific DNA sequences within cells/tissue samples
What does FISH involve and result in?
it involves the hybridisation of fluorescently labelled DNA probes to complementary target sequences on chromosomes or other cellular structures
following hybridisation, excess unbound probes are washed away, leaving only the specifically bound probes attached to their complementary targets
by visualizing the fluorescent signals under a microscope, scientists can determine the spatial distribution and abundance of the target DNA sequences
What is karyotype analysis?
it is a cytogenic technique used to visualise and evaluate the number, size and structure of chromosomes in a cell sample.
What does karyotype analysis involve, and what does it result in
arranging chromosomes in a standard format based on size, banding patterns and centromere position
by examining the karyotype, geneticists can identify numerical abnormalities and structural abnormalities
What is non-invasive prenatal testing?
it is a highly accurate screening method used to detect chromosomal abnormalities in a fetus
What does NIPT involve and result in?
it involves analysing cell-free DNA fragments circulating in the maternal bloodstream, which originate from the placenta
it can identify conditions like down syndrome, edwards syndrome, patau syndrome and provide valuable information for prenatal care and decision-making
