Microarrays Flashcards
ISCN: add
additional material of unknown origin
ISCN: chi
chimera
two cell lines identified as begin from two diff. individuals
ISCN: del
deletion
ISCN: der
derivative
ISCN: dup
duplication
ISCN: fra
fragile site
ISCN: idic
isodicentric
ISCN: ins
insertion
ISCN: inv
inversion
ISCN: mar
marker
ISCN: mat (or pat)
maternal/patern origin
ISCN: mos
mosaic
ISCN: pter, qter
terminal ends of the short and long arms
ISCN: t
translocation
FISH type: ish
in situ hybridization
metaphase
FISH type: nuc ish
in situ hybridization
interphase
Limitations of karyotype/G-banding?
Advantages?
need actively dividing cells
low resolution
eval entire genome
can detect balanced translocations
Limitations of FISH? Advantages?
only eval specific region of the probe
need to determine up front which regions will be FISHed
don’t need dividing cells
higher resolution than G-banding
faster turnaround time than G-banding
Limitations of microarray? Advantages?
- cannot detect balanced rearrangements
- detect abnormalities only if the region is included in the array
- higher yield of VUS
- low-level mechanisms may not be detected
- cannot detect free vs. translocation trisomy
- no active dividing cells
- high resolution
- more accurate size and location of abnormalities
- customizable
- can detect loss of heterozygosity
CMA is another name for:
microarray
Microarrays are great for detecting:
copy number variants
some limitations if additions are elsewhere
What types of probes are used in microarray?
oligonucleotides
SNPs
-helpful for detecting regions of LOH
What can LOH imply?
consanguinity
What does it mean if a result is cryptic?
can be seen with FISH and microarray but not with G-banding
They loci targetted by microarray are mostly (nonpolymorphic/polymorphic).
nonpolymorphic
