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STEP1 > Biochemistry/Genetics > Flashcards

Biochemistry/Genetics Flashcards

1
Q

Autosomal Dominant Diseases

A 
ADPKD
Familial Adenomatous Polyposis
Familial Hypercholesterolemia
Hereditary Hemmorrhagic Telangiectasia
Hereditary spherocytosis
Huntington
Marfan
MEN
NF type 1/2
Tuberious Sclerosis
VHL
Achnodroplasia
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2
Q

Autosomal Recessive Diseases

A 
ALbinishm
ARPKD
Cystic Fibrosis
Hemochromatosis
Kartagner syndrome
phenylketonuria
sickle cell
thalassemias
wilson disease
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3
Q

X Linked

A 
Bruton agammaglobulinemia
wiskott-aldrich
fabry
g6pd
ocular ablinism
lesch nyhan
dmd
hunter
hemophili a/b
ornithine trancarbamylase deficiency
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4
Q

Trinucleotide repeats

A

Hungtington, myotonic dystrophy, fredreich ataxia, fragile x

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5
Q

Fragile X

A

FMR1 gene
macroorchidism
mitral valve prolapse

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6
Q

Edwards

A

trisomy 18

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7
Q

Williams Syndrome

A

Chromosome 7
microdeltion long arm
Elf - friendly
(will ferell)

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8
Q

Cri-du-chat syndrome

A

micro deletion of short arm 5

mewing like a cat

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9
Q

Myotonic type 1

A

DMPK gene
difficult loosening grip on door knob
autosomal dominant type 1 fibers

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10
Q

DMD vs Becker

A

DMD - frameshift

Becker - Point mutation

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11
Q

Tay-sachs vs Niemann-pick

A

Tay-sachs no heaptosplenomegaly

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12
Q

Hurler

A

alpha-l-iduronidase - heparan sulfate
AR
gargoylism, corneal clouding

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13
Q

Hunter

A

Iduronate sulfatase - heparan sulfate
XR
no corneal clouding

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14
Q

Fabry

A 
alpha-galactosidase A
ceramide trihexoside
XR
angiokeratomas
cardiovascular
renal disease
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15
Q

Gaucher

A

glucocerebrosidase - glucocerebroside
AR
hepatosplenomegaly
lipid macrophages resembling crumpled tissue paper

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16
Q

Niemann-pick

A

sphingomyelinase
sphingomyelin
AR
foam cells

17
Q

Krabbe Disease

A 
galactocerebrosidase - galactocerbroside
AR
peripheral neuropathy
globoid cells
optic atrophy
18
Q

Metachromatic leukodystrophy

A 
arylsulfatase A - cerebroside sulfate
AR
central/peripheral demyleination
ataxia
dementia
19
Q

TCA CYCLE

A 
Citrate Is Krebs Starting Substrate For Making Oxaloacetate
Citrate
IsoCitrate
Alpha-Keto
Succinyl-coa
Succinate
Fumarate
Malate
OAA
20
Q

FAB GUT

A

Fructose - Aldolase B

Galactose - Uridyl Transferase

21
Q

Electron Transport

A 
RACO
Rotenone - 1
Actinycin A - 3
Cyanide - 4
Oligomycin - 5
22
Q

Gluconeognesis irreversible enzymes

A 
Pathway Produces Fresh Glucose
pyruvate carboxylase
PEP carboxykinase
Fructose 1,6 bisphophatase
GLucose 6-phosphatase
23
Q

Phenyalanine

A 
P
Tyrosine - thyroxine
Dopa - melanin
Dopamine
NE
EPI
24
Q

BH4

A

Phe to Tyrosine
Tyrosine to Dopa
Trytophan to serotonin
Arginine to nitric oxide

25
Q

Apo E

A

Remnant reuptake

26
Q

Apo A-1

A

activate LCAT

27
Q

Apo C-2

A

LPL COfactor

28
Q

Apo b-48

A

release chylomicron

29
Q

Apo b-100

A

binds ldl receptor

30
Q

Familial dyslipidemia type 1

A

defect in lipoprotein lipase

high chylomicrons

31
Q

Familial dyslipidemia type 2a

A

Defect in ldl receptor

32
Q

Familial dyslipidemia type 4

A

hepatic overproduction of VLDL

33
Q

Fatty acid Synthesis vs Breakdown

A 
SYtrate = synthesis
Carnitine = CARnage of fatty acids

STEP1 (21 decks)

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