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23 Cards in this Set
- Front
- Back
major apolipoproteins
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A1 -Activates LCAT
B100 - Binds to LDL receptor C-II - Cofactor for lipoprotein lipase E - mediates Extra (remnant) uptake |
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lipoprotein lipase function
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degradation of TG circulating in chylomicrons and VLDLs
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chylomicrons - originate where?
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are secreted by intestinal epithelial cells
B-48 mediates secretion |
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VLDL originates where
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secreted by liver. secretion mediated by B-100
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HDL originates where?
does what? |
secreted from both liver and intestine
mediates reverse transport of cholesterol, from periphery to liver HDL is Healthy LDL is Lousy |
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underproduction of heme causes what anemia?
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microcytic hypochromic anemia
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accumulation of heme intermediates causes?
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porphyria
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types of porphyrias
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lead poisoning
acute intermittent porphyria cutanea tarda |
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symptoms of porphyria
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5 Ps: psychologic, painful abdomen, pink urine, polyneuropathy, precipitated by drugs
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what factor favor taut over relaxed form of hemoglobin
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high CO2, H+, Cl, 2,3-BPG and temperature
relaxed hemoglobin binds O2 more readily |
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pleiotropy definition
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1 gene has > 1 efect on an individual's phenotype
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mitochondrial inheritance
transmitted by who? disease examples? |
only through mother
leber's hereditary optic neuropathy, mitochondrial myopathies |
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neurofibromatosis
inheritance pattern? symptoms of 1 and 2? |
autosomal dominant
type 1 - cafe au lait spots, neural tumors, lisch nodules (pigmented iris) type 2 - bilateral acoustic neuromas |
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X-linked recessive disorders
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duchenne's muscular dystrophy, lesch-nyhan syndrome, hemophilia A and B, G6PD deficiency, fragile X
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duchennes muscular dystrophy
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x-linked recessive frame shift mutation --> deletion of dystrophin gene --> accelerated muscle breakdown. weakness begins in pelvic girdle muscles
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becker's muscular dystrophy
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less severe than duchenne's, mutated dystrophin gene (not deleted)
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fragile X
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triplet repeat disorder that may show anticipation
2nd most common cause of MR fragile X = eXtra-large testes, jaw, and ears |
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down syndrome
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trisomy - 21
findings: congenital heart disease, alzheimers disease, increased risk of ALL |
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edwards syndrome
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trisomy 18
findings: MR, rocker bottom feet, low-set ears, micrognathia (small jaw), heart disease, clenched hands, prominent occiput. death before 1st bday |
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pattau's syndrome
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trisomy 13
findings: MR, polydactyly microphthalmia, microcephaly, cleft lip, congenital heart disease death before 1st bday |
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cri-cu-chat
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cry of the cat
deletion of short arm of 5 findings: microcephaly, MR, meowing, cardiac anomalies |
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22q11 syndromes
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CATCH-22
cleft palate, abnormal facies, thyroid aplasia, cardiac defects, hypocalcemia (due to parathyroid aplasia) |
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number one cause of congenital malformation in the US
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fetal alcohol syndrome
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