Module 11 Flashcards
Primer Extension
A primer is hybridized upstream of the nucleotide. If there is a match the primer with anneal and extend
PCR-RFLP/Snip-SNP
PCR amplifies the SNP site and run through gel electrophoresis. If a SNP is present, two samples will have different banding patterns.
Molecular beacon
small fragment of ssDNA that forms a hairpin loop with annealed quencher (3’) and reporter (5’) on each end
Hybridization-based
Beacon created as a complementary base pair to a target DNA. When mixed with DNA sample, if it matches the beacon it will stretch out the hairpin and fluoresce.
Pathogen detection
bacterial or viral nucleic acid based techniques
qPCR
faster, more precise, sensitive, quantitative, detects a small amount. Usually coupled with a beacon
chromosomal aberration
mutations big enough to be seen on a chromosome under microscope
cytogenetics
field linking chromosomal variations with phenotypes
karyotype
chromosome chart observing abnormalities
syntenic block
region in which two genes appear in the same order in two different species
FISH
fluorescence in situ hybridization used to visualize chromosomes
comparative genomic hybridization
technique that can detect gains or losses of chromosomal region associated with a phenotype
non-allelic homologous recombination
the cause of CNVs occurring during meiosis. misalignment of homologous chromatids during recombination
next generation sequencing technology
genome fragments sequenced and mapped to a reference. if no CNVs they will match up
atypical chromosomes
number of chromosomes is not 46 or rearranged material
balanced chromosomes
normal amount of genetic information but atypical structure. translocations and inversions
unbalanced chromosomes
atypical structure resulting in excess or deficit genetic material. duplications and deletions
polyploidy
extra set of chromosomes
triploid
three sets of chromosomes
aneuploidy
missing or extra one chromosome. nondisjunction
trisomy
three copies of a chromosome
trisomy 13
patau syndrome
trisomy 18
edward syndrome
trisomy 21
down syndrom
down syndrome critical region
near the end of chromosome 21 contains 3 genes associated with symptoms. extra copy affects gene dosage
sex chromosome aneuploids
nondisjunction in sperm or egg. phenotypically normal
chromosome shorthand
total chromosome number, sex chromosome constitution, atypical autosomes (47, SS, +21)
translocation carriers
region of chromosome are swapped resulting in gain or loss of genes
robertsonian translocation
two short arms break off and long arms are combined
reciprocal translocation
chromosomes exchange parts and rearrange. same amount of genetic material
genetic counseling
provides pedigree construction
prenatal genetic counseling
empiric and family-based risks
family history of inherited disease
explains mode of inheritance and risk
genetic testing
various methods to use genetic information for identifying diseases
testing
ordered due to history or symptom
screen
not based on specific medical reason
MoM value
multiple of the median indicates how far an individual’s test results deviate from the norm
indirect method
measure levels of biochemicals in blood correlated with chromosomal composition
direct method
DNA stains and probes distinguish banding patterns
amniocentesis
fetal cells and fluid removed from uterus for karyotyping
chronic villus sampling
cell samples from chronic villi in placenta for karyotyping
cell-free fetal DNA
fetal cell-free DNA in maternal blood can be karyotyped
non-invasive prenatal testing
cell-free fetal DNA testing
preimplantation genetic diagnosis
in vitro fertilization, genetic analysis before implantation
newborn screening
screen metabolite and DNA to identify high risk of inherited diseases called actionable
biochemicals
products of genes that may be missing metabolic pathways
PKU
enzyme breaks down phenylalanine is missing
babyseq project
boston babies sequenced to determine feasibility of entire genome sequencing of babies
chromosome microarray analysis
detects CNVs associated with autism and intellectual disabilities
exome sequencing
sequencing coding regions of genes
carrier testing
detection of recessive mutations
predisposition testing
individual has allele associated with increased risk of dieases
predictive testing
individual has allele determines having disease
OMIM
online mendelian inheritance in man resource
Taqman
realtime PCR
FRET
fluorescence resonance energy transfer from reporter to quencher
