This word describes genetically inactive regions of chromosomes.
What is heterochromatin?
This proteolytic enzyme partially digests parts of chromosomes prior to applying a dye.
What is trypsin?
This chromosome is responsible for the coat of calico cats.
What is the X chromosome?
This type of mutation (variant) could result from
c.[112del];[112=]
What is a frameshift?
A 260/280 nm ratio over 2 indicates this type of contamination.
What is RNA contamination?
This type of heterochromatin is located on the X chromosome.
What is facultative heterochromatin?
This widely used enzyme was named ‘Molecule of the Year’ in 1989.
What is Taq polymerase?
Two very different syndromes can result from a deletion within the same region of this chromosome.
What is chromosome 15?
This is missing from the HGVS protein nomenclature: p.His2Glnfs6
What is Ter (or*) after fs?
This term means going from a pre-PCR to a post-PCR area and never in reverse (two words).
What is unidirectional workflow?
With this stain, barium hydroxide degrades euchromatin before heterochromatin.
What is CBG?
This enzyme is used to generate complementary DNA from an RNA template.
What is reverse transcriptase?
Infants missing the top of this chromosome have a high-pitched cry.
What is chromosome 5?
This abbreviation describes centromeric heterochromatin that is significantly longer than usual.
What is cenh+?
This rhyming term refers to a potential undesirable PCR by-product.
What is primer dimer?
This fluorescent stain results in a brilliant signal in the heterochromatin of chromosome Y.
What is QFQ staining?
A class of enzymes used to cut DNA into fragments.
What are restriction endonucleases?
In oncology, the derivative form of this chromosome is said to hail from Philadelphia.
What is chromosome 22?
This ISCN nomenclature describes a male fetus with Edwards Syndrome tested by QF-PCR.
What is rsa(X,Y)x1,(13)x2,(18)x3,(21)x2
This may be suspected if a prenatal sample shows a mix of male and female cells.
What is maternal cell contamination?
This procedure requires the use of silver nitrate particles.
What is AgNOR?
This enzyme is used to dissociate tissue into single cells for long term culture.
What is collagenase?
The presence of an isochromosome of its short arm will result in Pallister-Killian mosaic syndrome.
What is chromosome 12?
This cDNA nomenclature describes a heterozygous variant where the 2nd nucleotide of the start codon is changed to a G (2nd allele not needed).
What is c.2T>G
These are largely resistant to antibiotics and cannot be detected visually by turbidity.
What are mycoplasmas?