Biochemistry Flashcards
What two amino acids are histones rich in?
lysine and arginine
What type of islands does DNA become methylated at?
CpG
What DNA base has a methyl group?
thymine
Uracil is a deaminated form of what base?
cytosine
What three amino acids are necessary for purine synthesis?
Glycine, Aspartate and Glutamine (GAG)
S in Nucleoside = ?
base + Sugar
T in Nucleotide = ?
base + phosphaTe
What amino acid does pyrimidine biosynthesis begin with? What enzyme acts on it?
Glutamine
CPS Two
What amino acid joins orotic acid? What drug inhibits this rxn?
aspartate
Leflunomide
What enzyme does Leflunomide inhibit?
dihydroorotate Dehydrogenase
What enzyme does hydroxyurea inhibit?
Ribonucleotide Reductase
What enzyme does 5-FU inhibit? What end-product has an inhibition of production?
thymidylate synthase
dTMP
IMP Dehydrogenase is involved in the RLS of what nucleotide?
GTP
What enzyme does 6-MP inhibit? What is the pro-drug of 6-MP?
HGPRTase
azathioprine
What product are all purines synthesized from? What enzyme works on this product?
Ribose-5-Phosphate
PRPP Synthetase
What is the prodrug of 6-MP?
azathioprine
What three drugs inhibit dihydrofolate reductase?
Trimethoprim, Methotrexate and Pyrimethamine
What rxn does dihydrofolate reductase catalyze?
DHF to THF
What rxn does ADA catalyze?
deamination of adenosine into inosine
What is the co-factor for HGPRTase?
PRPP
What two rxns does xanthine oxidase catalyze?
- hypoxanthine to xanthine
2. xanthine to uric acid
What enzyme becomes inhibited during ADA Deficiency?
ribonucleotide reductase
Under the action of HGPRTase, what is hypoxanthine converted into?
IMP
Under the action of HGPRTase, what is guanine converted into?
GMP
What codon codes for methionine?
AUG
What codon codes for tryptophan?
UGG
What are the only two amino acids coded for by a single codon?
methionine and tryptophan
What drug inhibits prokaryotic Topoisomerase Type II?
fluoroquinolones
What two DNA polymerases are unique to prokaryotes?
Type III and Type I
In which direction does DNA pol III add nucleotides?
5’ to 3’
In which direction does DNA pol III proofread (Exonuclease Activity)?
3’ to 5’
What are the two functions of prokaryotic DNA Pol I?
remove RNA primers and replaces it with DNA
What is a transition mutation?
purine to purine or pyr. to pyr.
What is a transversion mutation?
purine to pyr. or pyr. to purine
What DNA replication pathway is defective during xeroderma pigmentosum?
nucleotide excision repair
What end does DNA endonuclease cleave?
5’
What end does DNA lyase cleave?
3’
What DNA repair mechanism is faulty in HNPCC?
mismatch repair
What DNA repair mechanism is faulty in ataxia telangiectasia?
non-homologous end joining
What position of DNA is the hydroxyl group located?
3’ end
What binds at the promoter?
RNA polymerase
What binds the enhancer?
Tx Factors
What binds at the silencer?
negative repressors
What enzyme does α-aminitin inhibit?
RNA pol II
What does eukaryotic RNA pol I synthesize?
rRNA
What does eukaryotic RNA pol II synthesize?
mRNA
What does eukaryotic RNA pol III synthesize?
tRNA
What three processes are done to mRNA before it leaves the nucleus?
capped, tailed and spliced
Is the 5’ or 3’ end of mRNA capped? What molecule is used as a cap?
5’
7-methylguanosine
Is the 5’ or 3’ end of mRNA polyadenylated?
3’ = polyA
Where in the cell does translation occur?
cytosol
What is the six nucleotide polyadenylation signal?
AAUAAA
What are snRNPs involved with?
formation of spliceosome
anti-Smith antibodies target what? What disease?
snRNP’s
SLE
Anti-U1 RNP’s are highly indicative of what disease?
mixed connective tissue disease
Is the CCA of tRNA on the 3’ or 5’ end?
3’
What is the function of the T-Arm of tRNA? What three bases are carried on the T-arm of tRNA?
to bind tRNA ribosome
Thymine/pseudouridine/Cytosine
The D-arm of tRNA contains what base? What is the function of this base?
dihydrouracil
binding of correct aminoacyl-tRNA synthetase
Is the CCA of tRNA on the 3’ or 5’ end?
3’
What does aminoacyl tRNA synthetase use for energy?
ATP
What ribosomes make up the eukaryotic ribosome?
40S and 60S
What ribosomes make up the prokaryotic ribosome?
30S and 50S
What is the energy source for the intitiation of protein synthesis?
GTP
What does the A site of the ribosome hold?
A-mino acyl tRNA
What amino acid charged tRNA does not bind to the A site?
methionine
What is the function of rRNA?
catalyze peptide bond
What does ‘A’ of APE stand for according to translation?
accodomates incoming amino-acyl tRNA
What does ‘P’ of APE stand for according to translation?
acomodates growing Peptide
What does ‘E’ of APE stand for according to translation?
holds Empty tRNA
What are the three stop codons?
UAG, UAA, UGA
What are the two stable (quiescent) cell types?
hepatocytes and lymphocytes
What organelle do Nissl bodies function as?
rER
What cell type are Nissl bodies found in?
Neurons
What two activities occur at the smooth ER?
steroid synthesis
drug detoxification
N-linked glycosylation occurs on what amino acid?
asparagine
O-linked glycosylation occurs on what amino acid?
serine and threonine
What monosaccharide is added to proteins for them to be trafficked to what organelle?
mannose-6-phosphate
lysosomes
What is defective in I-cell disease? Which organelle is responsible for the error?
phosphorylation of mannose residues
golgi
Does COP-I traffic anterograde or retrograde?
retrograde
Does COP-II traffic anterograde or retrograde?
anterograde
What two types of fatty acids are processed in the peroxisome?
very long chain and branched chain
What heterodimer makes up microtubules? What molecule do microtubules use for energy?
α-tubulin and β-tubulin
GTP
What three structures possess microtubules?
flagella, cilia and mitotic spindles
What five drugs act on microtubules?
Mebendazole,Griseofulvin, Colchicine, Vincristine/Vinblastine, Paclitaxel
What is the mnenomic for the five drugs that act on microtubules?
Microtubules Get Constructed Very Poorly
Is dynein retrograde or anterograde?
retrograde
Is kinesis retrograde or anterograde?
anterograde
Do cilic have a 9+2 or a 9+3 arrangement?
9+2
What structure is defective in kartagener syndrome? What specific protein?
cilia
dynein
What is the main manifestation of Kartagener syndrome in men and women?
infertility
What kind of pregnancy is more common in Kartagener syndrome?
ectopic
What is the sterol of fungal cell walls?
ergosterol
Vimentin is an immunohistochemical marker of what tissue type?
connective tissue
Desmin is an immunohistochemical marker of what tissue type?
muscle
Cytokeratin is an immunohistochemical marker of what tissue type?
epithelial
GFAP is an immunohistochemical marker of what tissue type?
neuroglia
Oubain inhibits what transporter?
Na+/K+ ATPase
Where on the Na+/K+ ATPase does Oubain bind?
K+ binding site
What are three tissues where Type I collagen is found?
bone, tendon, skin
Where is type two cartilage found?
cartilage
What type of collagen is found in blood vessels?
type three
What type of collagen is targeted in Alport syndrome?
Type 4
What type of collagen is targeted in Goodpasture syndrome?
Type 4
Collagen is composed of 1/3 of what amino acid?
glycine
What do X and Y of Gly-X-Y stand for?
proline and lysine
What type of post-translational modification occurs to collagen other than hydroxylation? At what residues?
glycosylation
hydroxylysine
Problems forming the triple helix of collagen result in what disease?
Osteogenesis Imperfecta
What is cleaved to form tropocollagen from procollagen?
disulfide rich regions
What enzyme forms cross-links in tropocollagen? What is required as a co-factor?
lysyl oxidase
copper (2+)
What disease results if lysyl oxidase is defective?
Ehlers-Danlos Syndrome
The most common form of osteogenesis imperfecta is caused by what defects in what type of collagen?
Type I
Where does a berry aneurysm occur? What disease predisposes one to a berry aneurysm?
cerebral artery bifurcating from CoW
Ehlers Danlos
What is not absorbed in Menkes Disease? What are two characteristics of the most common manifestation of Menkes Disease?
Copper
brittle and kinky hair
Elastin is rich in which two amino acids? Hydroxyated or non-hydroxylated?
proline and glycine
non-hydroxylated
What inhibits elastase?
α1 anti-trypsin
Marfan syndrome is characterized by a defect in what protein? What is the purpose of this protein?
fibrillin
bundle elastin
What cytokine cannot bind fibrillin in Marfan syndrome? What two body parts can result in a fatality in marfan syndrome?
TGF-β
aorta and heart valves
What is the mnenomic for remembering what southern, northern and western blots look for?
SNoW DRoP
An indirect ELISA uses what as a probe? What is being looked for?
indirect = antigen
looking for antibody
A direct ELISA uses what as a probe? What is being looked for?
direct = antibody
looking for antigen
What does a southwestern blot identify?
DNA binding proteins
Cre-Lox is used to identify genes at what?
specific developmental points
Does RNAi used ssRNA or dsRNA? How does the RNA get into cells?
dsRNA
transfection
What does variable expressivity mean?
same genotype, different phenotype
What does incomplete penetrance mean?
not all genotypes show same phenetype
What does pleiotropy mean?
one gene can produce multiple different phenotypes
What is locus heterogeneity? What disease?
mutations at different loci can produce the same phenotypes
albinism
What is allelic heterogeneity? What disease?
different mutations in the same locus produce the same phenotype
Beta-thalassemia
What is heteroplasmy?
presence of both mutated and normal mtDNA result in variable expression of disease pattern
What is uniparental disomy?
a child receives two copies of a chromosome from one parent and none from the other
What chromosome is ADPKD carried on?
16
What chromosome is FAP carried on?
5
The levels of what two neurotransmitters are decreased in the brain during Huntingtons? What is the trinucleotide repeat of Huntingtons?
GABA and Ach
CAG
What chromosome is disrupted in Huntingtons?
Chromosome 4 (Hunting 4 Food)
What type of damage is done to the aorta during Marfans?
cystic medial degeneration
What two valves are primarily effected during Marfans?
aortic and mitral
What five glands are effected by Multiple Neocrine Neoplasia?
pancreas, parathyroid, pituitary, thyroid and adrenal medulla
What two forms of MEN are associated with the RET gene?
MEN 2A and MEN 2B
What chromosome is NF1 carried on?
17
What is the inheritance pattern of NF1?
Autosomal Dominant
What chromosome is NF2 carried on?
22
Which neurofibromatosis disease features cafe-au-lait spots and cutaneous neurofibromas?
NF1
What are the four findings of NF2?
bilateral acoustic schwanomas
juvenile cataracts
ependyoma
meningoma
What type of growth is seen during Tuberous Sclerosis?
Hamartomas
What chromosome is VHL disease carried on?
three
three words in disease
What protein does VHL usually inhibit the activation of? How does it accomplish this?
HIF1α
acts as an E3 ubiquitin ligase
What three genes can HIF1α activate?
VEGF, PDGF and Epo.
In what location(s) does normal CFTR functioning lead to the secretion of Cl-?
lungs and GI tract
In what location(s) does normal CFTR lead to the reabsorption of Cl-?
sweat glands
What type of disease can a loop diuretic mimic?
CF
What body part can be absent in males with cystic fibrosis?
vas deferens
What is the inheritance pattern of Bruton Agammaglobulinemia?
X-linked
What type of infection do patients with Bruton Agammaglobulinemia develop? At what age?
encapsulated bacteria
infancy
What is the inheritance pattern of Wiskott-Aldrich?
X-linkedin recessive
What is the triad of Wiskott-Aldrich?
eczema, thrombocytopenia, immune deficiency
In what disease can T-cells not reorganize their actin cytoskeleton?
Wiskott-Aldrich
What enzyme is deficient in Fabry disease? What product accumulates?
α-galactosidase
globotriaosylceramide
The production of what product is inhibited in G6PD deficiency?
6-phosphogluconolactone
What enzyme is deficient in Hunter Syndrome?
iduronate sulfatase
What two products accumulate in Hunter Syndrome?
dermatin sulfate and heparin sulfate
What reaction is catalyzed by Ornithine Transbarbamoylase One?
carbamoyl phosphate and ornithine into citrulline
What is the mnenomic to remember X-linked recessive diseases?
Be Wise, Fools GOLD Heeds Silly HOpe
What is the most common death of a patient with DMD?
dilated cardiomyopathy
What happens to dystrophin during DMD?
deletion
What two proteins does dystrophin link?
actin and dystroglycan
What two serum protein markers are present in DMD?
CPK and aldolase
What type of mutation usually takes place in DMD?
frameshift
What type of mutation usually takes place in BMD?
point mutation
What trinucleotide repeat is present in myotonic dystrophy type 1?
CTG
Which protein is improperly expressed in myotonic dystrophy type 1?
myotonin protein kinase
Other than myotonia and muscle wasting, what are two more symptoms of myotonic muscular dystrophy type 1?
frontal balding and cataracts
What trinucleotide repeat is present in Fragile X?
CGG
What gene is effected during Fragile X? What post-transcriptional modification is effected?
FMR1
methylation
What three body parts are enlarged during Fragile X?
testes, jaws and ears
What is the trinucleotide expansion in Friedrich’s Ataxia?
GAA
Where is trisomy in Edwards Syndrome?
18
What two GI diseases can a person with Downs develop?
duodenal atresia
Hirschprung Disease
What is the most common heart defect for a patient with Downs Syndrome?
ASD (ostium primum)
What two types of cancer is a patient with Downs syndrome predisposed to?
ALL and AML
What type of neurodegenerative disease can a person with Downs develop past the age of 35/40?
Alzheimers
What five chromosomes can undergo a robertsonian translocation?
13, 14, 15, 21 and 22
What two structures produce α-FP in the fetus?
yolk sac and liver
What four specific types of tumors can possess elevated α-FP?
- endodermal sinus/yolk sac
- hepatoblastoma
- hepatocellular carcinoma
- Neuroblastoma
What are two physical characteristics of a patient with Edwards Syndrome?
rocker-bottom feet
low set ears
What are three physical characteristics of Patau Syndrome?
cleft liP/Palate
holoProsencephaly
polydactyly
What is an acrocentric chromosome?
chromosome with centromeres near their ends
What chromosomal aberration causes Cri-du-chat?
microdeletion of 5p
What heart abnormality can present in a patient with Cri-du-chat?
VSD
What chromosome is effected by Williams Syndrome? Long or short arm?
7
long
What electrolyte deficiency can a patient with Williams Syndrome present with? Why?
hypercalcemia
increased sensitivity to Vitamin D
What is the karyotype of a patient with DiGeorge Syndrome? What is the mnemonic?
22q11
CATCH22
What does the ‘C’ of CATCH22 stand for?
cleft palate
What does the ‘A’ of CATCH22 stand for?
abnormal facies
What does the ‘T’ of CATCH22 stand for?
thymic aplasia
What does the second ‘C’ of CATCH22 stand for?
cardiac defects
What does the ‘H’ of CATCH22 stand for?
Hypocalcemia
What pharyngeal arches are defective in DiGeorges Syndrome?
3rd and 4th
What is the function of H1 histone?
linker between nucleosomes
What two DNA bases are capable of being methylated?
adenine and cytosine
How many rings do purines have? Pyrimidines?
purines = two
pyrimidines = one
What two amino acids are required for pyrimidine synthesis?
Aspartate and glutamine
What amino acid is required for CPS I?
glutamine
What is the first base the leflunomide will inhibit the synthesis?
UMP
What two enzymes make up UMP Synthase?
Orotate phosphoribosyl transferase
O5P Decarboxylase
What are the three MOAs of ribavirin?
- inhibits GMP/GTP formation
- blocks mRNA capping
- blocks RNA-dependent RNA polymerase
What rxn is catalyzed by ribonucleotide reductase?
UDP tp dUDP
Thymidylate synthase will inhibit the formation of what nucleotide?
dTMP
What reaction does APRT catalyze?
adenine to AMP
What are the two rxn’s catalyzed by Xanthine Oxidase?
- Hypoxanthine to Xanthine
2. Xanthine to uric acid
What does the H of HGPRT stand for? (Mnemonic)
Hyperuricemia
What does the G of HGPRT stand for? (Mnemonic)
gour
What is allopurinol an analogue of?
Hypoxanthine
What rxn is catalyzed by amidophosphoribosyltransferase? What amino acid is consumed and a byproduct? What metabolic pathway is this enzyme involved in the committed step of?
PRPP to PRA
Gln to Glu
Purine
What type of prokaryotic topoisomerases do fluoroquinolones inhibit?
Type II
What six nucleotide fragment does telomerase add? What end of the DNA?
- TTAGGG
2. 3’
Does telomerase use an RNA or DNA primer?
RNA
What type of muscular dystrophy features a frameshift mutation?
Duchenne
Is the triphosphate on the 5’ or the 3’ end of the incoming nucleotide?
5’
What is the function of the CCA of tRNA?
transport amino acids
What is the function of rRNA?
catalyze peptide chain growth
What Cyclin corresponds to G0? Which CDK?
C
CDK3
Which cyclin corresponds to G1? Which CDK?
D and E
2, 4 and 6
Which cyclin corresponds to S? Which CDK?
A and E
2
Which cyclin corresponds to G2? Whick CDKs?
A
2 and 1
Which cyclin corresponds to M? Which CDKs?
B
1
What is the function of Nissl Bodies?
site of neurotransmitter synthesis
Rather than being trafficked to lysosomes, what happens for proteins in I-cell disease?
secreted extracellularly
What type of collagen is reticulin found in?
Type III
What are the three main manifestations of Alport Syndrome?
- hematuria
- proteinuria
- bilateral hearing loss
What three tissues is Type IV collagen most important?
kidney, ear and eye
What two tissues are most effected by Goodpasture Syndrome?
lungs and kidneys
Lysyl oxidase forms cross linkages between which two amino acid residues of collagen?
lysine and hydroxylysine
What veins are visible in the eye during Osteogenesis Imperfecta?
choroidal veins
What normal component of teeth can be absent during Osteogenesis Imperfecta?
dentin
What two types of aneurysms can be present in Ehlers-Danlos Syndrome?
berry and aortic
What type of collagen is most most commonly effected during Ehlers-Danlos Syndrome?
Type V
What enzyme is primarily effected during Menkes Disease? Leading to a deficiency of?
lysyl oxidase
collagen
What type of degeneration can occur in the CV system due to Marfans?
cystic medial degeneration
Fibrillin-1 sequesters what cytokine?
TGF-β
What is imprinted in Prader-Willi? Deleted?
mother = imprinted
father = deleted
What is imprinted in Angleman? Deleted?
mother = deleted
father = imprinted
What type of genetic disease are at an increased risk of affecting children in consanguineous families?
autosomal recessive
What does FGF23 do to phosphate reabsorption?
decreases it
Is FGF23 increased or decreased in its activity during Hypophosphatemic Ricketts?
increased
Which tRNA is affected by MERRF?
tRNA-lysine
Is autosomal dominant polycystic kidney disease unilateral or bilateral?
always bilateral
What two proteins are affected in Hereditary Spherocytosis?
spectrin and ankyrin
What does hereditary spherocytosis lead to?
hemolytic anemia
What is the function of ankyrin and spectrin?
allow RBC to change shape
What is the inheritance pattern of Hereditary Spherocytosis?
Autosomal Dominance
What specific part of the brain atrophies during Huntingtons?
Caudate
What is the mode of inheritance for Huntingtons?
Autosomal Dominant
What is the mode of inheritance for Marfans?
Autosomal dominant
What are the five tissues susceptible to MEN?
- parathyroid
- pancreas
- pituitary
- thyroid
- adrenal medulla
What forms of MEN are associated with ret gene?
2A and 2B
What is the mode of inheritance of multiple endocrine neoplasia?
autosomal dominant
What is the mode of inheritance of NF2?
autosomal dominant
Are cafe-au-lait spots indicative of NF1 or NF2?
NF1
Are cafe-au-lait spots indicative of NF1 or NF2?
NF1
What is another name for NF1? What chromosome?
von Recklinghausen
17
Are cutaneous neurofibromas indicative of NF1 or NF2?
NF1
What is the mode of inheritance for both neurofibromatosis?
autosomal dominant
What two proteins are mutated during Tuberous Sclerosis?
Hamartin and Tuberin
What type of protein is VHL?
E3 ubiquitin ligase
What is the mode of inheritance for VHL?
autosomal dominant
What is the common bug in lung infections for CF patients?
Pseudomonas
What is the function of N-acetylcysteine?
to cleave mucus plugs
What structure can be absent in males with CF?
vas deferens
What vitamins can be absent in a patient with CF?
A, D, E and K
What type of muscles experience pseudohypertrophy in DMD?
calf muscles
What gene gets deleted in Williams syndrome?
elastin
What is the main CV problem in a person with Williams Syndrome?
supravalvular aortic stenosis
Which two drugs block the conversion of IMP to GMP?
Mycophenelate mofitil
ribavirin
Which enzyme does Leflunamide inhibit?
Dihydroorotate Dehydrogenase
Leflunomide inhibits which reaction?
carbamoyl phosphate into orotate
Which rxn does amidophosphoribosyl transferase inhibit?
PRPP into PRA
Which enzyme is the committed step of de novo purine synthesis?
Amidophosphoribosyltransferase
6-Mercaptopurine inhibits what enzyme?
HGPRTase
What two reactions does HGPRTase catalyze?
Guanine into GMP
Hypoxanthine into IMP
What rxn does APRT catalyze?
adenine into AMP
What rxn does ADA catalyze?
adenosine into inosine
Which RNA Polymerase degrades the RNA Primer? Which direction?
One
5’ to 3’
What type of enzyme is telomerase?
RNA dependent DNA polymerase
Which enzyme can be missing in Ehlers-Danlos Sydrome?
procollagen peptidase
Does Procollagen Peptidase function in the intra or extra cellular space?
extra
Does a Procollagen Peptidase deficiency result in collagen that is water soluble or insoluble? What does this cause?
soluble
deficient cross linking
What type of bond creates the triple helix?
disulfide
Which metal is a co-factor for Lysyl Oxidase?
copper
Is Xeroderma Pigmentosum enzyme an endo or exo nuclease?
endonuclease
What type of enzyme is functioning during base excision repair?
Glycosylase
Toxic Deamination is repaired by what process?
Base Excision Repair
Does the parent or daughter strand get methylated?
parent
What is the common secondary structure that spans membranes?
alpha-helices
Is the triphosphate on the 5’ or 3’ end?
5’
Is fMET prokaryotes or eukaryotes?
pro
fMet can increase the chemotaxis of what immune cell?
neutrophils
Which drug can inhibit Eukaryotic RNA Polymerase?
Dactinomycin
What is the polyadenylation sequence? Does this require a template?
AAUAAA
no
What is the function of Cytoplasmic P-Bodies?
quality control of mRNA
What is the initial RNA transcript called?
heterogenous nuclear RNA
P-Bodies contain what three enzymatic activities?
exonuclease
decapping
microRNA
Which disease involves alternative splicing?
beta-thalassemia
Which site does initiator methionine bind to?
A site
Is there amino acid incorporation proofreading?
no
What is the telomerase sequence?
TTAGGG
What type of enzyme is Telomerase?
Reverse Transcriptase
What is the normal secondary structure of amyloid?
alpha-helical
What is the pathological secondary structure of amyloid?
beta-sheets
Which phases of the cell cycle compose interphase?
G1/S/G2
What organelle does N-linked Glycosylation occur at?
rER
Which two cell types are rich in rER?
mucus secreting goblet cell
plasma cells
What organelle does O-linked Glycosylation occur at?
Golgi
Defects in what organelle have been noted in Parkinsons?
Peroxisome
Which molecule is required to convert Azathioprine into 6MP?
glutathione
Which five amino acids are both glucogenic and ketogenic?
Trp
Phe
Tyr
Ile
Thr
Which protein connects the doublets in a Microtubule?
Dynein
What molecule does dynein use for energy?
ATP
C1 Deficiency predisposes a patient to what type of bacteria?
Encapsulated
C1 Deficiency predisposes a patient to what type of autoimmune disease?
SLE
What is the most common type of collagen absent in Ehlers Danlos?
type three
Fatty acids must be under how many carbons before they are taken into the mitochondria?
14
What is the Mode of Inheritance for Ehlers-Danlos?
autosomal recessive or dominant
Ehlers Danlos syndrome manifesting in the joints and skin features a defect in what type of collagen?
Type 5
Ehlers Danlos syndrome manifesting in the vascular or organ rupture is a defect in what type of collagen?
three
Selenium is needed for what enzyme?
glutathione peroxidase
What specific enzyme is deficient during I-cell?
N-acetylglucosamine-1-phosphoribosyltransferase
What specific happening does Kartagener Syndrome do to the heart?
aberrant looping
Karyotyping uses chromosomes in what phase?
metaphase
Which protein acts as a scaffold for elastin?
fibrillin
What are two co-dominant traits?
blood types
alpha-1 anti-trypsin
Which disease is known to have variable expresstivity?
NF1
Which disease is known to have Incomplete Penetrance?
BRCA
Which disease is known to have Pleiotropy?
PKU
What disease is fatal if somatic but survivable if mosaic?
McCune Albright
Does RB release E2F when hyper or hypo phosphorylated?
hyper
What is the function of p27?
cell cycle inhibitor
What is heterodisomy?
inheritance of two non-identical chromosomes from a parent
Heterodisomy indicates an error in what stage of replication?
meiosis one
What is isodisomy?
inheritance of two identical chromosomes from a parent
Isodisomy indicates an error in what stage of replication?
meiosis two
What is the sole lipoprotein of LDL?
B-100
What are allotypes?
inherited constant regions of heavy and light Ig
What is an Idiotype?
antigen recognition sequence of immunoglobulin
What are the three X-Linked Dominant diseases?
Hypophosphatemic rickets
Rett Syndrome
Fragile X
What enzymes are deficient in MERRF?
oxidative phosphorylation
Which acid/base abnormality can present during MERRF?
lactic acidosis
Which cranial nerve abnormality can MERFF have?
hearing loss
Which B-vitamin deficiency can be mimmicked in MERFF? Manifesting as?
B2
night blindness
What does MELAS mean?
Myoclonic epilepsy with lactic acidosis and stroke like symptoms
Which chromosome is PKD1 on?
16
Which chromosome is PKD2 on?
4
What is the mode of inheritance of Familial Hypercholesterolemia?
AD
Does Huntingtons have an increased or decreases level of Ach?
decreased
Marfan Syndrome involves what chromosome?
15
What is the diretion of the lens Sublaxation during Marfan?
upward
temporally
What disease presents with Multiple Benign Hamartomas?
Tuberous Sclerosis
What four cancera arise during LiFraumeni?
Sarcoma
breast
Leukemia
Adrenal
What is the mode of inheritance for LiFraumeni Syndrome?
AD
What protein does VHL bind and inhibit?
HIF-1-alpha
What type of protein does VHL act like?
E3 ubiquitin ligase
What chromosome is CFTR located on?
seven
What male genitourinary structure is affected during CFTR? What happens to it?
vas deferens
absent
Which two proteins does dystrophin bind?
actin
dystroglycan
Which trinucleotide disease can present with testicular atrophy?
myotonic dystrophy
What does the Myotonic of Myotonic Dystrophy lead to?
delayed muscle relaxation
What heart abnormality can present during Fragile X?
MVP
What disease is tested for by culturing lymphocytes with methotrexate or folate deficient medium and looking for breaks in chromosomes?
Fragile X
Which trisomy presents with a gap between the first two toes?
Downs
What type of ASD does Downs Syndrome present with?
Ostium Primum
Is PAPP-A increased or decreased during Downs?
increased
Are the short arms or long arms lost during a robertsonian translocation?
short
What ingested material can cause a deficiency in fat soluble vitamins?
Mineral Oil
