Genetics: Abbreviations

Question 1

RFLP

Answer 1

restriction fragment length polymorphism

Question 2

cM

Answer 2

centimorgans

Question 3

VNTRs

Answer 3

variable number of tandem repeats

Question 4

SNPs

Answer 4

single nucleotide polymorphisms

Question 5

cDNA

Answer 5

complementary DNA

Question 6

UTR

Answer 6

untranslated region

Question 7

ORF

Answer 7

open reading frame

Question 8

FISH

Answer 8

fluorescence in situ hybridization

Question 9

CGH

Answer 9

comparative genomic hybridization

Question 10

CNAs/CNVs

Answer 10

copy number alterations/variations

Question 11

BACs

Answer 11

bacterial artificial chromosomes

Question 12

PCR

Answer 12

polymerase chain reaction

Question 13

STR

Answer 13

short tandem repeats

Question 14

MLPA

Answer 14

multiplex ligation-dependent probe amplification

Question 15

DMD

Answer 15

Duchenne Muscular Dystrophy

Question 16

LOF

Answer 16

loss-of-function

Question 17

GOF

Answer 17

gain-of-function

Question 18

OI

Answer 18

osteogenesis imperfecta

Question 19

FGFR3

Answer 19

fibroblast growth factor receptor gene

Question 20

SBMA

Answer 20

spinal-bulbar muscular atrophy (Kennedy’s disease)

Question 21

SCA

Answer 21

spinal-cerebellar ataxia

Question 22

HD

Answer 22

Huntington’s disease

Question 23

Htt

Answer 23

Huntington protein

Question 24

SMA

Answer 24

spinal muscular atrophy

Question 25

SMN

Answer 25

survival motor neuron protein

Question 26

BMD

Answer 26

Becker muscular dystrophy

Question 27

DAPC

Answer 27

dystrophin-associated protein complex

Question 28

DGC

Answer 28

dystrophin-associated glycoprotein complex

Question 29

MERRF

Answer 29

myoclonic epilepsy and ragged red fibers

Question 30

MELAS

Answer 30

myopathy, encephalopathy, lactic acidosis, stroke-like episodes