Genetics: Abbreviations Flashcards by Caroline Win | Brainscape

Q

RFLP

A

restriction fragment length polymorphism

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Q

cM

A

centimorgans

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Q

VNTRs

A

variable number of tandem repeats

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Q

SNPs

A

single nucleotide polymorphisms

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Q

cDNA

A

complementary DNA

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Q

UTR

A

untranslated region

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Q

ORF

A

open reading frame

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Q

FISH

A

fluorescence in situ hybridization

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Q

CGH

A

comparative genomic hybridization

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Q

CNAs/CNVs

A

copy number alterations/variations

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Q

BACs

A

bacterial artificial chromosomes

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Q

PCR

A

polymerase chain reaction

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Q

STR

A

short tandem repeats

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Q

MLPA

A

multiplex ligation-dependent probe amplification

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Q

DMD

A

Duchenne Muscular Dystrophy

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Q

LOF

A

loss-of-function

Q

GOF

A

gain-of-function

Q

OI

A

osteogenesis imperfecta

Q

FGFR3

A

fibroblast growth factor receptor gene

Q

SBMA

A

spinal-bulbar muscular atrophy (Kennedy’s disease)

Q

SCA

A

spinal-cerebellar ataxia

Q

HD

A

Huntington’s disease

Q

Htt

A

Huntington protein

Q

SMA

A

spinal muscular atrophy

Q

SMN

A

survival motor neuron protein

Q

BMD

A

Becker muscular dystrophy

Q

DAPC

A

dystrophin-associated protein complex

Q

DGC

A

dystrophin-associated glycoprotein complex

Q

MERRF

A

myoclonic epilepsy and ragged red fibers

Q

MELAS

A

myopathy, encephalopathy, lactic acidosis, stroke-like episodes