First Aid Biochem

Front 1

cause of orotic aciduria

sx's

treatment?

Back 1

inability to convert orotic acid to UMP (for pyrimidine synthesis)

high orotic acid in urine, megaloblastic anemia not corrected with vit. B12 or folic acid

rx with uridine administration

Front 2

kid mutilates himself and has retardation....whats he got, and i want details

Back 2

Lesch-Nyhan syndrome

defect in HGPRT so you cant salvage purines

X-linked recessive

can also lead to gout

Front 3

which type of mutation results in an early stop codon

Back 3

Nonsense

Stop the Nonsense!

Front 4

which two DNA polymerases are unique to prokaryotes

which of those two degrades the RNA primer and fills in the gap with DNA

Back 4

DNA polymerase I and III

polymerase I does the degrading and filling in

Front 5

what is mutated in xeroderma pigmentosum

Back 5

DNA excise repair genes

Front 6

what is mutated in hereditary nonpolyposis colorectal cancer

Back 6

mismatch repair genes

Front 7

name the three types of RNA

Back 7

rRNA----most abundant
mRNA----longest
tRNA---smallest

Rampant----Massive----Tiny

Front 8

give me the start and stop codons

Back 8

start: AUG
stop: UGA, UAA, UAG

U Go Away
U Are Away
U Are Gone

Front 9

Eukaryote RNA polymerases and what type of RNA they make

Back 9

I makes rRNA
II makes mRNA
III makes tRNA

Front 10

in what direction is RNA read when translated

Back 10

in the 5 to 3 direction

Front 11

give me the sizes of the eukaryotic and prokaryotic ribosomes

Back 11

Eukaryotes: 40S + 60S = 80S
Even

prOkaryotes: 30S + 50S = 70S
Odd number, bacteria are Odd

Front 12

which endoplasmic reticulum is responsible for detox of drugs and poisons

Back 12

the smooth

Front 13

what is I-cell disease all about

Back 13

its an inherited lysosomal storage disease where you get a failure to add mannose-6-phosphate to lysosome proteins (this targets them to the lysosome)

enzymes targeted for the inside of the cell get excreted out

see coarse facial features, clouded corneas, restricted joint movements

Front 14

what is chediak-higashi syndrome

Back 14

microtuble polymerization defect resulting in decreased phagocytosis

Front 15

what is kartageners syndrome

Back 15

immotile cilia due to dynein arm defect

associated with female and male infertility, bronchiectasis, recurrent sinusitis

Front 16

name 5 drugs that act on the microtubule

Back 16

mebendazole/thiabendazole
griseofulvin
vincristine/vinblastine
paclitaxel
cochicine

Front 17

how does ouabain work

Back 17

inhibits binding to K+ site on the K/Na pump

Front 18

give me the types of collagen and some examples of where they are found

Back 18

Type I, II, III, IV

I---Bones, Skin, Tendons
II--Cartilage
III--Reticulin (skin, blood vessels, uterus)
IV--Basement membrane

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Front 19

what amino acid is needed the most in collagen formation

Back 19

glycine

Front 20

hydroxylation during collage synthesis requires what

Back 20

vitamin C

as we go on, we remember...

Front 21

the formation of what is inhibited in osteogenesis imperfecta

Back 21

procollagen (the triple helix)

Front 22

what collage is most frequently affected in ehlers danlos syndrome

Back 22

type III

Front 23

inheritance patter of OI

Back 23

autosmal dominant

the bones DOMINATE (usually, but not in this case)

Front 24

why are the sclera blue in OI

Back 24

thinning of the scleral collagen reveals the underlying choroidal veins

Front 25

inheritance pattern of Alports syndrome

Back 25

Al the little 4 year old is an xman...did i mention he's little (recessive)

X-linked recessive

Front 26

marfans is due to a defect in what?

Back 26

fibrillin

Front 27

when you want to see specific locations of a gene (looking for a deletion, or change in sequence) what technique do you use

Back 27

FISH

fluorescence in situ hybridization

Front 28

a happy kid that laughs inappropriately and is retarded (not because he laughs inappropriately but because he really is)

what is the disease and where is the deletion

what is the other disease related to this

Back 28

angelmans syndrome...Maternal deletion at chromosome 15

Prader-willi syndrome is the other disease....Paternal deletion at the same spot

Front 29

lebers hereditary optic neuropathy follows what inheritance pattern

Back 29

mitochondrial

Front 30

heterozygous mom with an x-linked recessive disease has what chance of giving it to her son

Back 30

50%

Front 31

whats the defect in achondroplasia

Back 31

fibroblast growth factor

Front 32

what gene is MEN 2A and 2B associated with, also what is the inheritance pattern

Back 32

ret gene

autosomal dominant

the MEN are dominant (thats right, i said it)

Front 33

cystic fibrosis affects what chromosome and what amino acid

Back 33

chromosome 7

amino acid: phenylalanine

Front 34

name the x-linked recessive disorders

Back 34

Brutons, Wiskott-aldrich, Fabry's disease, G6PD def, Ocular albinism, Lesch-nyhan, Duchennes (and beckers), Hunters Syndrome, Hemophilia a and b

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Front 35

deletion of what gene leads to duchennes and beckers muscular dystrophy...which is worse too

Back 35

dystrophin gene

Duchennes is worse

Front 36

whats the trinucleotide repeat with Huntingtons and Fragile X and mytonic dystrophy and friedreichs ataxia

Back 36

Huntingtons: CAG

fraGile X: CGG

myoTonic: CTG

Friedreichs: GAA (fred says GAA!!!!)

Front 37

what gene is affected with Fragile X and what are some of the signs of it

Back 37

FMR1 gene (problem with methylation and expression)

X-tra large testes, jaw and ear

Front 38

kid has a micrognathia and clenched fist with retardation...disease and gene

Back 38

Edwards Syndrome....trisomy 18

that kid edwards from high school---i think he was 18

Front 39

kid has cleft lip/palate, holoprosencephaly, polydactyly...disease and gene

Back 39

Patau's syndrome

trisomy 13

Patau----Puberty occurs at 13

Front 40

microdeletion of short arm of chromosome 5 leads to what

Back 40

cri-du-chat

Front 41

microdeletion of long arm of chromosome 7 leads to what

Back 41

williams syndrome

happy kid with elfin facies that is asian on the piano...or violin, or oboe or whatever and also very friendly

Front 42

3rd and 4th branchial pouch development problem disease sx's

name two disease

Back 42

Cleft papalte, Abnormal facies, Thymic aplasia, Cardiac defect, Hypocalcemia all due to 22q11 deletion

CATCH 22

DiGeorge syndrome---deals more with thymic, parathyroid problems
Velocardiofacial syndrome--deals more with palate and facial problems

Front 43

dude has cracking at the corners of his mouth and his cornea look all vascularized...whats he got

Back 43

Riboflavin deficiency

vitamin B2---you have 2 eyes and its the 2 C's (cornea, cheilosis)

the flava (riboflavin) goes in your mouth

Front 44

deficiency of vitamin B3 can lead to what...first tell me what it is and what it is derived from

Back 44

niacin---derived from tryptophan

glossitis, pellagra when severe (diarrhea, dementia, dermatitis with pellagra)

Front 45

deficiency of this vitamin can lead to peripheral neuropathy....its also used in transamination (ALT and AST in da liver)....also name for me the drug that can cause a deficiency

Back 45

vitamin B6

INH can cause deficiency

Front 46

this vitamin is a cofactor for homocysteine methyltransferase

Back 46

B12 (cobolamin)

Front 47

B12 deficiency or folic acid deficiency....which has neurologic sx's

Back 47

B12

Front 48

ergocalciferol
cholecalciferol
calcitriol

which for is which for vitamin D (also name the source for 2 of them)

Back 48

erocalciferol---D2 from plants
cholecalciferol---D3 from milk and skin in the sun
calcitriol---active form made in kidney

you are green---ergo you are a plant

Front 49

what ratio goes up in the liver with lots of alcohol metabolism?

Back 49

the NADH/NAD ratio

Front 50

hypo or hyperglycemia with alcohol intox?

Back 50

hypo

Front 51

you see orotic acid in the blood and urine and symptoms of hyperammonemia....disease? inheritance pattern

Back 51

ornithine transcarbamoylase deficiency

X-linked recessive

Front 52

kid has high phenylalanine in his blood and low tyrosine...disease and deficiency?

what are the sx's

Back 52

phenylketonuria

deficiency of phenylalanine hydroxylase converting Phe to tyrosine

sx's of retardation (mental and growth), musty body odor, fair skin

Front 53

blocked degradation of branched amino acids (name them) is what disease?

Back 53

Ile, Leu, Val

I Love Vermont maple syrup

Maple Syrup urine disease

Front 54

name the 4 glycogen storage diseases

Back 54

von gierkes
pompe's
coris
mcardles

Very Poor Carb Metabolism