Chromosomal Karyotype Flashcards
Diagnoses disorders from a missing/additional chromosome
Chromosomal Karyotype
Chromosome Labeling
n (p/q) r.b
Sample taken from the fluid of the amniotic sac
Amniocentesis
Sample taken from the fetal tissue that forms part of the placenta
Chorionic Villus Sampling
What phase of mitosis are chromosomes viewed under Light Microscopy
Metaphase
Traditional types of staining
G-Baning
Q-Banding
R-Banding
Classic method of staining
Homogenous staining by Giemsa
Dark stained bands in G-bands
Adenine-Tyrosine
Pale stained bands in G-bands
Guanine-Cytosine
Dark stained bands in R-bands
Guanine-Cytosine
Pale stained bands in R-bands
Adenine-Tyrosine
Transcriptionally inactive part of chromosome
Telomere
Transcriptionally active part of chromosome
Euchromatin
Dark stained in C-banding
Resistant heterochromatin
Pale stained in C-banding
Euchromatin parts
Stops mitosis in metaphase
Colcemid / Colchine
Stimulate mitosis when making a Karyotype
Phytohemagglutinin
Technique that hybridizes a DNA nuclei acid probe to a target DNA sequence contained w/in a cell nucleus
Fluorescence In-Situ Hybridization
Nucleic acid that can be labeled w/ a marker used for identification & quantitation
Probe
Part of DNA/RNA that is complementary to certain sequence on target DNA
Probe
Combination of Phase & Plasmid DNA
Cosmid
Amplification of certain segment of chromosomal DNA
PCR-product
Biotinylated is also labeled as
Avidin-Streptavidin
Probe that has specificity for a single human chromosome arm
Telometric Probe
Hybridized probe fluoresces w/ bright intensity along the length of the chromosome
Whole Chromosome Painting
Probe that makes centromere regions stained brighter
Chromosome Enumerator Probe
Formation of a duplex b/w 2 complementary sequences
Nucleic Acid Hybridization
b/w 2 polynucleotide chains w/ complementary bases
Intermolecular Hybridization
Example of machine for Automated Hybridization
HYBrite
FISH results time
< 24hrs
Karyotyping results time
7- 10 days
PCR was invented in what year
1984
Laboratory version of DNA Replication in cells
Polymerase Chain Reaction
Occurs outside the body
In Vitro
Occurs within the body
In Vivo
Catalyzes the elongation of DNA by adding nucleoside triphosphates to the 3’ end of the growing strand
DNA Polymerase
Enzyme that can start an RNA chain from scratch
Primase
Untwists the 2 parallel DNA strands
Helicase
Relieves the stress of twisting
Topoisomerase
Taq DNA Polymerase is purified from what hot spring bacterium
Thermus Aquaticus
Size of DNA fragment produced in PCR is dependent on what?
Primers
DNA of interest is amplified by power of # for each PCR cycle
whats #?
2
HD gene has a pattern called trinucleotide repeats w/ ‘‘CAG’’ occurring in repetition <30 times
Non-HD Individuals
'’CAG’’ trinucleotide repeat occurs >36 times
HD Individuals
Mutations in the cystic fibrosis transmembrane conductance regulator (CTFR) gene
Cystic Fibrosis
codes for a protein that is a chloride ion channel
Cystic Fibrosis Transmembrane Conductance Regulatory gene
Application of PCR in Forensic Science
Paternity Suits
