Biochemistry/Genetics

Question 1

Autosomal Dominant Diseases

Answer 1

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

Question 2

Autosomal Recessive Diseases

Answer 2

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

Question 3

X Linked

Answer 3

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

Question 4

Trinucleotide repeats

Answer 4

Hungtington, myotonic dystrophy, fredreich ataxia, fragile x

Question 5

Fragile X

Answer 5

FMR1 gene
macroorchidism
mitral valve prolapse

Question 6

Edwards

Answer 6

trisomy 18

Question 7

Williams Syndrome

Answer 7

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

Question 8

Cri-du-chat syndrome

Answer 8

micro deletion of short arm 5

mewing like a cat

Question 9

Myotonic type 1

Answer 9

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

Question 10

DMD vs Becker

Answer 10

DMD - frameshift

Becker - Point mutation

Question 11

Tay-sachs vs Niemann-pick

Answer 11

Tay-sachs no heaptosplenomegaly

Question 12

Hurler

Answer 12

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

Question 13

Hunter

Answer 13

Iduronate sulfatase - heparan sulfate
XR
no corneal clouding

Question 14

Fabry

Answer 14

alpha-galactosidase A
ceramide trihexoside
XR
angiokeratomas
cardiovascular
renal disease

Question 15

Gaucher

Answer 15

glucocerebrosidase - glucocerebroside
AR
hepatosplenomegaly
lipid macrophages resembling crumpled tissue paper

Question 16

Niemann-pick

Answer 16

sphingomyelinase
sphingomyelin
AR
foam cells

Question 17

Krabbe Disease

Answer 17

galactocerebrosidase - galactocerbroside
AR
peripheral neuropathy
globoid cells
optic atrophy

Question 18

Metachromatic leukodystrophy

Answer 18

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

Question 19

TCA CYCLE

Answer 19

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

Question 20

FAB GUT

Answer 20

Fructose - Aldolase B

Galactose - Uridyl Transferase

Question 21

Electron Transport

Answer 21

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

Question 22

Gluconeognesis irreversible enzymes

Answer 22

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

Question 23

Phenyalanine

Answer 23

P
Tyrosine - thyroxine
Dopa - melanin
Dopamine
NE
EPI

Question 24

BH4

Answer 24

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

Question 25

Apo E

Answer 25

Remnant reuptake

Question 26

Apo A-1

Answer 26

activate LCAT

Question 27

Apo C-2

Answer 27

LPL COfactor

Question 28

Apo b-48

Answer 28

release chylomicron

Question 29

Apo b-100

Answer 29

binds ldl receptor

Question 30

Familial dyslipidemia type 1

Answer 30

defect in lipoprotein lipase | high chylomicrons

Question 31

Familial dyslipidemia type 2a

Answer 31

Defect in ldl receptor

Question 32

Familial dyslipidemia type 4

Answer 32

hepatic overproduction of VLDL

Question 33

Fatty acid Synthesis vs Breakdown

Answer 33

``` SYtrate = synthesis Carnitine = CARnage of fatty acids ```