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in G6PD deficiency the decrease in NADPH can lead to _____ if exposed to _____
hemolytic anemia;oxidizing agents ( fava beans,sulfonamides, primaquine)and antituberculosis
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In PKU what builds up andwhat can be found in theurine
phenyalanine builds up eleading to phenylketones in the urine
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In PKU, what amino acid becomes essential
tyrosine.
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in the Hardy-Weinbergequation, what are the p and q and what is 2pq
p and q are each separatealleles; 2pq = heterozygote
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no male to male transmission is characteristic of what type of genetic disorders?
X-linked recessive
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Pompe's disease is caused by a defect in?
lysosomal alpha-1,4-glucosidase defiency
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Sickle cell anemia is caused by what defect and what is it's prevalence
AR single missense mutation in the beta globin; 1:400 blacks
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Sickle cell anemia patient soften present with
recurrent painful crisis and increased susceptibility to infections
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Skin sensitivity to UV light secondary to a DNA repair defect is characteristic of what?
xeroderma pigmentosum
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Sphingosine + fatty acid yields
ceramide
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the COL1A gene mutation is associated with what disease and what type of mutation is this
Osteogenesis imperfecta;dominant negitive mutation
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The main defect in Ataxia telangiectasi is a ___
DNA repair defect
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The most common form of Osteogenesis imperfecta has what genetic problem and inheritance
abnormal Collagen Type Isynthesis;Autosomaldominant
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the transporter for what amino acids is defective in cystinuria
COLA: Cys,Ornithine, Lysine and Arginine
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Thymidine dimers are formed by exposure of DNA to UV light, are the dimers formed on the opposing strands of a DNA molecule or on the same side?
dimers are on same side
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Tryptophan can be used tomake what three chemicals
Niacin, 'Serotonin, melatonin
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Type III Glycogen storage disease is a defiency of ?
deficiency of debranching enzyme alpha-1,6-glucosidase
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What is the cause Tx and symptoms of Lactase intolerance?
Lactase defiency, avoid diary products or add lactse pills to diet symptoms bloating,cramps, osmotic diarrhea
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What % of kids born to father with mitochondrial myopathie will be effected
none, mitochondrial myopathies are inherited from mitochondria which is only inherited from the mother
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What are the clinical signs of Krabbe's disease
optic atrophy, spasticity, early death
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What are the components of Cerebroside
Ceramide + glucose/galactose
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What are the components of Sphingomyelin
Ceramide +phosphorylcholine
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What are the components of sphingosine
serine + palmitate
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What are the findings and treatment of pyruvate dehydrogenase
neurologic defects; increase intake of ketogenic nutrients
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What are the findings in McArdles's disease and what is the problem
increased glycogen in skeletal muscle due to a Glycogen phosphorylase defiency strenuous exercise cause myoglobinuria and painful cramps
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What are the findings in PKU and what is the treatment
Mental retardation, fair skin,eczema, musty body odor Tx. Decreasee phenylalanin(nutrasweet) and increase tyrosine
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What are the findings in Pompe's disease and what is it alternate name
Cardiomegaly and systemic findings, leading to early death. Pompe's trashes the Pump. (Heart, Liver andmuscle) Type II Glycogenstorage disease
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What are the findings in Von Gierke's disease
severe fasting hypoglycemia,increased glycogen in the liver
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What are the four assumptions of the Hardy-Weinberg equilibrium
1.There is no mutation occuring at the locus 2. There is no selection for any of the geno types at the locus 3.Random mating 4. nomigration in or out
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What are the purely ketogneic amino acids
lysine and leucine
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What are the signs and symptoms of essential fructosuria
asymptomatic, begin,Fructose appears in blood and urine
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what are the signs and symptoms of Homocystinuria
Homocysteine accumulates in urine and cystine becomes essential Methionine and it's metabolites build up in blood Mental retardation,osteoporosis, dislocation of the lens
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What are the symptoms of Alkaptonuria
Dark Urine from alkapton bodies; also connective tissue is dark, may have arthralgias. Bengin disease
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What are the symptoms of Fructose intolerance
hypoglycmeia, jaundice,cirrhosis
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What are the symptoms of Maple syrup Urine disease
CNS defects, mental retardation and death. Urine smells like maple syrup
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What biological chemicals are derived form phenylalanine
tyrosine, thyroxine Dopadopamine NE, Epinephrine and Melanin
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What causes Essential Fructosuria
defect in fructokinase
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What causes Lesch-Nyhansyndrome
Absence of HGPRTase,(normally converts hypoxanthine to IMP and guanine to GMP) Lacks Nucleotide Salvage (LNS)-purines
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What do melanin and Norepinephrine have in common
both derived directly from dopamine Phenylalanine to tyrosine to Dopa to Dopamin
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What does the term 'loss ofheterozygosity' mean
when one allele of an allele pair is lost. An example is when a patient inherits or develops amutation in a tumor suppressor gene and the complimentary allele is then lost to deletion/mutation. The patient would not develop the cancer until the loss of the normal allele
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What enzyme defiencies are associated with hemolytic anemia
Glycolytic enzymedeficiencies 1. Hexokinase 2.glucose-phosphateisomerase 3.aldolase 4.triose-phosphate isomerase 5. phosphate-glyceratekinase enolase pyruvate kinase
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What event in embryology can cause albinism
lack of migration of neural crest cells to skin (formmelanocytes)
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What genetic error can cause Severe Combined Immnuodeficiency (SCID)?
Adenosine deaminase deficiency
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what group of people can be seen with pyruvate dehydrognease deficiency
alcoholics due to B1 defiecincy
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What is a complication of cystinuria
cystine kidney stones
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What is a dominant negative mutation?
a mutation that exerts a dominant effect because the body cannot produce enough of the normal gene product with only one allele functioning normally
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What is a good pnuemonic forthe four glycogen storage diseases
Very-Von Gierke's Poor-Pompes Carbohydrate-Cori's Metabolism-McArdles
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What is commonly associated with xeroderma pigementosa?
dry skin, melanoma and other cancers
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What is crucail to the diagnosis of an Autosomal dominant disease?
Family history
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What is genetic anticipation?
the severity of the disease worsens or age of onset of disease is earlier in succeeding generations
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