Genetics: Abbreviations Flashcards
(30 cards)
1
Q
RFLP
A
restriction fragment length polymorphism
2
Q
cM
A
centimorgans
3
Q
VNTRs
A
variable number of tandem repeats
4
Q
SNPs
A
single nucleotide polymorphisms
5
Q
cDNA
A
complementary DNA
6
Q
UTR
A
untranslated region
7
Q
ORF
A
open reading frame
8
Q
FISH
A
fluorescence in situ hybridization
9
Q
CGH
A
comparative genomic hybridization
10
Q
CNAs/CNVs
A
copy number alterations/variations
11
Q
BACs
A
bacterial artificial chromosomes
12
Q
PCR
A
polymerase chain reaction
13
Q
STR
A
short tandem repeats
14
Q
MLPA
A
multiplex ligation-dependent probe amplification
15
Q
DMD
A
Duchenne Muscular Dystrophy
16
Q
LOF
A
loss-of-function
17
Q
GOF
A
gain-of-function
18
Q
OI
A
osteogenesis imperfecta
19
Q
FGFR3
A
fibroblast growth factor receptor gene
20
Q
SBMA
A
spinal-bulbar muscular atrophy (Kennedy’s disease)
21
Q
SCA
A
spinal-cerebellar ataxia
22
Q
HD
A
Huntington’s disease
23
Q
Htt
A
Huntington protein
24
Q
SMA
A
spinal muscular atrophy
25
SMN
survival motor neuron protein
26
BMD
Becker muscular dystrophy
27
DAPC
dystrophin-associated protein complex
28
DGC
dystrophin-associated glycoprotein complex
29
MERRF
myoclonic epilepsy and ragged red fibers
30
MELAS
myopathy, encephalopathy, lactic acidosis, stroke-like episodes
