may14
1 with 1 at The Uniformed Services University of the Health Sciences
About this deck
By: Oskar Kizhner
Created: 2011-05-14
Size: 116 flashcards
Views: 6
Created: 2011-05-14
Size: 116 flashcards
Views: 6
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What cofactor does lysyl oxidase need?
copper
In collagen synthesis, where is terminal (disulfide bond rich) peptide cleaved?
outside via peptidases
Which type of osteogenesis imperfecta is fatal in utero?
type 2
What collagen is found in the basement membrane and is mutated in Alports syndrome?
type 4 collagen
What chemical technique would be most suitable if you wanted to visualize a very small microdeletion in a gene at the molecular level?
FISH (fluorescent probe to a gene)
What chemical technique would be suitable if you wanted to visualize a trisomy or chromosome deletion?
karyotype
What phase of mitosis does the karyotype process utilize?
metaphase
What is the difference between varible expressiona nd incomplete penetrance?
in variable expression, all people show some signs but just different (incomplete pen = some have no phenotype)
What is pleiotropy?
one gene has more than one effect on phenotype (i.e. PKU)
Prader willi (loss of the fathers or mothers gene)?
Fathers (mother normally inactivates/imprints this gene)
What chromosome is responsible for either prader-willi or angelman syndrome?
15.0
Clinical findings in Prader will?
mental retardation, obesity, hypogonadism
Clinical findings in Angelman?
mental retardation, wide based gait, innappropriate laughter
Loss of heterozygosity affects (tumor suppresor genes or oncogenes)?
tumor suppresor (need 2 hits)
A mutated nonfunctional gene prevents the normal gene from functioning. This is an example of what?
dominant negative mutation
Allele A and Allele B are inherited MORE OFTEN than expected by chance. They are found to be two linked loci. This is an example of?
linkage disequilibrium
Variable expression in a mitochondrial inherited disease is an example of what?
heteroplasmy (presence of both normal and mutated mtDNA)
According to the Hardy Weinberg equation, what is the equation for the presence of an X-linked recessive disease in males and females respectively?
males = q, females = q^2
hypophosphatemic rickets is inherited in what pattern?
X-linked Dominant
Advanced (maternal or paternal) age is associated with development of achondroplasia?
paternal
How many letters is polycystic kidney; what gene is polycystic kidney disease?
16.0
How many letters in polyp; what chromosome is familial adenomatous polyposis?
5.0
What gene is huntigntons on?
4 (hunting 4 food)
What trinucleotide is dysfunctional in huntington?
CAG
What disease is associated with subluxation of the lens and cystic medial necrosis of the aorta?
Marfans
What gene is associated with mutation of RET gene. In the thyroid?
medullary thyroid cancer
How many letters in von recklinghausen; what gene is NF1?
17 letters in recklinghausen
café-au lait, neurofibromas, optic gliomas, pheochromocytoma?
NF1
What NF syndrome has pheochromocytoma?
NF1
What gene NF2?
22 (merlin)
What familial syndrome is associated with seizures, mental retardation and increased incidence of angiomyolipomas in the kidney?
Tuberous Sclerosis
What gene is VHL?
3 (3 letters in VHL)
deletion if VHL (a tumor suppressor), will cause constitutive expression of what ?
HIF
What do you use to treat patients with cystic fibrosis, and it loosens mucus plugs?
NAC (N-acetylcysteine, the same thing we use for acetametophen overdoses)
Wiskott-Aldrich (inheritance?)
X-linked
What is the longest known human gene?
dystrophin (DMD) (X-linked Duchennes and Beckers)
What trinucleotide is expanded in a child with mitral valve prolapse, enlarged testes, and mental retardation?
CGG
What are some prenatal screening tests for DOWNs syndrome?
decreased AFP; increased nuchal translucency
What trisomy is associated with clept lip/palate, holoprosencephaly, and polydactyly?
13.0
Whats the difference between a paracentric and pericentric inversion?
paracentric does not include the centromere; pericentric includes the centromere
A child is born with a small head, epicanthal folds, and is crying very high pitched. What chromosome is affected?
5 (deletion of the short ar)
A child presents with mental retardation, good verbal skills, extreme freindliness. He looks like an elf. What ion will be abnormal?
Calcium (hypercalcemia in WILLIAMS SYNDROME)
What does CATCH 22 stand for?
cardiac, abnormal facies, thymic aplasia, cleft palate, hypocalcemia on GENE 22
What fat soluble vitamin is teratogenic?
vitamin A
4 enzymes that utilize thiamine pyrophosphate?
pyruvate DH, alpha- KG DH, transketolase, Branched chain AA DH
What vitamin deficiency is associated with high output heart failure?
wet beri beri = B1
What vitamin deficiency is associated with cheliosis and corneal vascularization?
B2 (the 2 C's_
What amino acid is needed to make endogenous niacin?
tryptophan (needs B6)
What are three causes of pellagra that are NOT due to B3 deficiency?
Hartnup (little tryptophan); Carcinoid (tryptophan breakdown); Isoniazid treatment (need B6 to convert tryptophan > serotonin)
What vitamin deficiency is associated with untreated corn?
B3
What vitamin deficiency can result in peripheral neuropathy and sideroblastic anemia?
B6 (need B6 for heme synthesis)
What is required for the conversion of NE to epinephrine and is what donates methykl groups to NE?
SAM (made from methionine)
What vitamin deficiency is associated with excessive ingestion of RAW EGGS ( what major enzyme is malfunctioned)?
Biotin (carboxylation, pyruvate carboxylase)
What vitamin keeps iron in the reduced Fe2+ state capable for absorption?
Vitamin C (can cause a false negative FOBT)
This vitamin protects erythrocytes from membrane damage by free radicals?
vitamin E (deficiency can lead to hemolytic anemia)
What vitamin deficiency can resemble friedrichs ataxia?
vitamin E
A patient on warfarin and a broad spectrum antibiotic like tetracycline develops bleeding and much prolonged pt and ptt?
destruction of intestinal flora LOWERS vitamin K
What enzyme does Disulfiram inhibit?
acetylaldehyde dehydrogenase
What causes the hypoglycemia in ethanol abuse?
too much NADH; pushes pyruvate to lactate, pushes OAA to malate; inhibits gluconeogenesis; stumlates fatty acid synthesis
What three BIG metabolic processes occur in BOTH the cytoplasma and the mitochondria?
Heme synthesis, Urea Cycle, Gluconeogenesis
What is the difference between a kinase and a phosphorylase?
a phosphorylase does NOT need ATP to add a phosphate group
what process does glutamine-PRPP amidotransferase CONTROL?
purine synthesis (upregulated in Lesh Nyhan)
What is the rate determining enzyme in fatty acid synthesis?
acetyl CoA carboxylase
What is the rate determining enzyme in fatty acid oxidation?
carnitine acyltransferase 1
What enzyme is responsible for fructose intolerance?
aldolase B
Which one is generally used in anabolic processes (NADPH or NAD+)?
NADPH
Which one is induced by insuline (hexokinase or glucokinase)?
glucokinase (also low affinity)
Which on has direct feedback inhibition (hexokinase or glucokinase)?
hexokinase
What do the following do to PFK-1? ATP, AMP, Citrate, F2,6P?
inhibit, activate, inhibit, activate
What will pyruvate kinase deficiency present as?
hemolytic anemia (RBC have no other means of making ATP)
What are the 5 factors found in pyruvate DH?
TPP, FAD, NAD, CoA, Lipoic acid
A patient presents with vomiting, rice water stool and garlic breath. What is the agent?
arsenic (inhibits lipoic acid)
What are the ONLY purely ketogenic amino acids?
lysine and leucine (use to treat PDH deficiency)
High levels of acetyl coA will activate this enzyme needed for gluconeogenesis?
pyruvate carboxylase
What kind of FATS can enter gluconeogenesis?
ODD chain fatty acids (create propionyl-CoA)
What enzyme produces the respiratory burst?
NADPH oxidase (creates superoxide)
What disease is associated with a loss of NADPH oxidase?
Chronic granulomatous disease
What kinds of invading pathogens are people with NADPH oxidase defiency at HIGHEST RISK OF?
catalase positive (staph, aspergillus, campy, pseudo)
What are Heinz bodies and what disease are they found in?
oxidized hemoglobin precipitated within RBCs (G6PD)
What inheritance if G6PD?
X-linked recessive
What is the pathogenesis of the hypoglycemia in fructose intolerance?
buildup of fructose-1 phosphate decreases available phosphate, cant do glucogenesis, glycogenolysis
An infant presents with failure to thrive, cataracts, large liver, and mental retardation. What is the enzyme deficiency?
galactose-1-phosphate uridyltransferase
What enzyme is responsible for the osmotic retinal damage in diabetics?
aldose reductase
A patient recently had a gastroenteritis a week ago was feeling fine until she came down with diarrhea. A stool osmolar gap is HIGH ( > 100). What should she stop doing?
drinking milk (gastroenteritis - lactase deficiency)
What 4 essential amino acids are glucogenic?
Met, Val, Arg, His
How do tissues transport ammonia to the liver?
Muscle (alanine); other tissues (glutamine)
Where do the two nitrogens of urea come from?
one from free amonia (tissue and muscle; glutamine or alanine); the other from aspartate (combines with citrulline)
What allosteric activator does carbamoyl phosphate syntehtase 1 require?
N-acetylglutamate
What amino acid is the major mechanism of removing ammonia from the brain?
glutamine
What drugs can be given for hyperammonia states in order to bind amino acids (glutamine) and assist in excretion?
benzoate and phenylbutyrate
Inheritance of ornithine transcarbamoylase deficiency?
X-linked recessive
What happens to BUN in OTC deficiency?
decreases
A patient with fair skin, mousy body odor, and mental retardation is not improving with restriction of diet?
he has tetrahydrobiopterin cofactor deficiency
Inhibition of degradation of what AMINO ACID is responsible for dark connective tissue, pigmented sclera, arthralgia, and black urine?
TYROSINE (homogentisic acid oxidase)
Increased homocysteine due to a defect in cystathionine synthase is a risk factor for what?
atherosclerosis (early MI and strokes); osteoporosis, kyphosis, mental retardation
What amino acid is essential in homocystinuria?
cysteine
A child with cystein kidney stones has a defect with what?
Proximal tubule transport of cysteine, ornithine, lysine, arginine (COAL)
What amino acids cause problems in maple syrup urine disease?
isoleucine, leucine, and valine (I love vermont maple syrup); BRANCHED
defective neutral amino acid transport in renal and gut?
Hartnup; no tryptophan; no niacin; pellagra
What are the 4 glycogen storage disease?
von girke; pompe; cori; mcardle
What 2 lysosomal storgae diseases are X-linked recessive?
hunters, fabrys
A patient comes in with small painless papules around the groin which show hyperkeratosis. He also has loss of sensation of the hands and feet, a murmur, and elevated levels of ceramide trihexoside. What enzyme is deficieny?
FABRY; a-galactosidase A
hepatosplenomegaly, aseptic necrosis of the femur, crumpled tissue paper. WHAT enzyme ?
glucocerebrosidase
Hepatosplenomegaly + cherry red spot?
Nieman Pick (sphingomyelinase)
Cherry red spot, no hepatosplenomegaly?
Tay sachs (hexosaminosidase)
Globoid cells, optic atrophy, peripheral neuropathy?
Krabbes (galactocerebrosidase)
Buildup of cerbrosidase sulfate, deficient arylsulfatase?
metachromatic leukodystrophy
a-l-iduronidase?
hurlers
iduronate sulfatase?
hunters; x-linked recessive
What deficiency causes low ketones and hypoglycemia, weakness, and hypotonia?
carnitine deficiency (cannot bring FA into the cell)
When is creatinine phosphate used for energy?
seconds of a sprint
What does apolipoprotein A-1 do?
activates LCAT (esterfication of cholesterol)
Which apolipoprotien binds LDL?
B100
Which apolipoprotein is a cofactor for lipoprotein lipase?
C2
What causes type 1 hyperchylomicronemia?
LPL or apoC2 deficiency
Deficiency in apoB100 and apoB48 associated with buildup of fat in the intetines?
abetalipoproteinemia
About this deck
By: Oskar Kizhner
Created: 2011-05-14
Size: 116 flashcards
Views: 6
Created: 2011-05-14
Size: 116 flashcards
Views: 6
About StudyBlue
STUDYBLUE makes things that make you better at school.
Things like online flashcards with photos and audio.
Things like personalized quizzes and friendly reminders about when (and what) to study next.
Think of it as a digital backpack™: access to all of your study materials online and on your phone.
STUDYBLUE exists to make studying efficient and effective for every student, for free. Join us.
“I have used this website for three exams, and I see a huge difference in my test results.”
Naj
Naj