Kabaeva, Zhyldyz: Genetic analysis in hypertrophic cardiomyopathy: missense mutations in the ventricular myosin regulatory light chain gene

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List of abbreviations

A

adenine

APS

ammonium persulphate

Arg

arginine

ATP

adenosine triphosphate

Asn

asparagine

Asp

aspartic acid

 

 

bp

base pair

BSA

body surface area

10xBSA

10xbovine serum albumine

 

 

C

cytosine

Ca2+

calcium ion

cDNA

complementary DNA

Cys

cysteine

 

 

del

deletion

dATP

2‘-deoxyadenosie-5‘-triphosphate

dCTP

2‘-deoxycytidine-5‘-triphosphate

dGTP

2‘-deoxyguanosine-5‘-triphosphate

dTTP

2‘-deoxythymidine-5‘-triphosphate

ddATP

2‘,3‘-dideoxyadenosine-5‘-triphosphate

ddCTP

2‘,3‘-dideoxycytidine-5‘-triphosphate

ddGTP

2‘,3‘-dideoxyguanosine-5‘-triphosphate

ddNTP

2‘,3‘-dideoxynucleoside-5‘-triphosphate

ddTTP

2‘,3‘-dideoxthymidine-5‘-triphosphate

DNA

deoxyribonucleic acid

dNTP

2‘-deoxynucleotide-5‘-triphosphate

7-deaza-dGTP

7-deaza-2‘-deoxyguanosine-5‘triphosphate

 

 

E

glutamic acid


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ECG

electrocardiography

EDTA

ethylenediaminetetraacetic acid

EF-hand domain

calcium ion binding domain

ELC

essential light chain

 

 

FAM

5-carboxy-fluorescein

 

 

G

guanine

Gln

glutamine

Glu

glutamic acid

Gly

glycine

g

gram

 

 

h

hour

HCl

hydrochloric acid

HCM

hypertrophic cardiomyopathy

His

histidine

 

 

ICD

implantable cardioverter defibrillator

Ile

isoleucine

ins

insertion

IVS

interventricular septum

 

 

JOE

2‘, 7‘-dimethoxy-4‘, 5‘-dichloro-6-fluorescein

 

 

K

lysine

KCl

potassium chloride

 

 

Leu

leucine

Lys

lysine

LV

left ventricle

LVEED

left ventricle end-diastolic dimension

LVOT

left ventricular outflow tract


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M

molar (mol/l)

Maron type

type of left ventricular hypertrophy distribution

Met

methionine

MDE-solution

mutation detection enchancement solution

MDE-F

MDE solution with formamide

mg

milligram

min

minute

ml

milliliter

mM

millimolar

MLC-1s/v

myosin light chain 1 slow/ventricular

MLC-2s/v

myosin light chain 2 slow/ventricular

mmol

milimol

MYL2

ventricular myosin regulatory light chain gene

MYL3

ventricular myosin essential light chain gene

µl

microliter

 

 

NaCl

sodium chloride

ng

nanogram

nm

nanometer

N-terminal

amino terminal

10xNEBuffer

New England Biolabs buffer

NYHA class

New York Heart Association class of heart failure

 

 

6% PAA

6% polyacrylamide gel solution

PCR

polymerase chain reaction

pH

negative log of hydrogen ion concentration

Phe

phenylalanine

PW

posterior wall

Pro

proline

 

 

Q

glutamine

 

 

R

arginine


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Ref

reference

RFLP

restriction fragment length polymorphism

RLC

regulatory light chain

ROX

6-carboxy-X-rhodamin

rpm

revolutions per minute

 

 

SAM

systolic anterior motion of mitral valve

SCD

sudden cardiac death

sec

second

Ser

serine

SDS

sodium dodecyl sulfate

SNP

single nucleotide polymorphism

Sty I

restriction enzyme

SSCP

single strand conformation polymorphism

 

 

T

thymine

TAMRA

N, N, N‘, N‘-tetramethyl-6-carboxyrhodamin

Taqalpha I

restriction enzyme

TBE

Tris-Boric acid-EDTA buffer

TEMED

N, N, N‘, N‘-tetramethyl-ethylendiamine

Tris

tris (hydroxymethyl)-aminomethane

Trp

tryptophan

Tyr

tyrosine

 

 

Val

valine


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