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39 Cards in this Set
- Front
- Back
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Define: polygenic
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Many genes contribute to trait
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Theshold of liability
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Seperates the affected vs unaffected (men more affected then women = multifactorial inheritance)
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How does liability threshold work in pyloric stenosis?
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Threshold Is lower in men then women thus its easier for met to get the stenosis
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Locus heterogeneity
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Mutations in different genes give similar phenotype -> different families have different mutations
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How does major gene distribution work?
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If AA then you are 200cm, if Aa then you are 170 cm, if aa then u are 150cm
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Concordant rate
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For qualitative traits - both the same
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Discordant rate
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Quantitative traits - one affected one not
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How do u find a QTL?
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Use a population w/affected an unaffected members -> perform a genome scan -> compare alleles at each locus w/trait -> scan regions for candidate genes
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What is the genetic factor that increases heart attacks?
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Familial hypercholesterolemia
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What is class I LDL receptor mutation
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No protein found
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What is class II-LDL receptor mutation?
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Cannot leave ER-> degraded
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What is class III-LDL receptor mutation?
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Cannot bind LDL
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What is class IV-LDL receptor mutation?
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Do not migrate to coated pits
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What is class V-LDL receptor mutation?
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Cannot dissociate from LDL -> not recycled to cell surface
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What are the treatments for LDL receeptor mutations
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1. ↓ intake of cholesterol and fats, 2. bile-acid binding resins (cholestyramine), 3. statins -> block cholesterol synthesis
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Hypertrophic cardiomyopathy
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Autosomal mutation in 10 genes for sarcomere- 1. beta-myosin heavy chain, myosin-binding protein C, troponin T
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Dilated cardio myopathy
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Autosomal dominant - X-lnked, mitochondrail mutations -> actin, cardiac troponin T, desmin
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Long QT interval
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Potassium and sodium channels
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MELAS
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Stroke like episode
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Protein C + S mutation
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Forms clots -> stroke
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Factor V leiden
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Caucasian -> ↑ clotting -> stroke
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NOTCH3 mutation
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Dementia -> stroke
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Liddle syndrome
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Defective epithelial sodium channel (ENaC) -> hypertension
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Gordon syndrome
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Increased renal salt reabsorption (WNK2/WNK4 kinases) -> hypertension
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Corticosteroid production
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Hypertension
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Mutation in HLA DR3/DR4
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Type I diabetes - autoimmune infection gone wrong after targeting viral infection
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Peripheral insulin resistance
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Type II diabetes
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Not obese, not lost pancrease, glucokinase mutation
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MODY diabetes
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Leptin deficiency in mice
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Obese mutant mice
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Neuropeptide Y + MCR 4 mutation
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Appetite control -> severe obesity
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Presenilin-1/2
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Alzheimers disease
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Neuropeptide Y + MCR4
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Maintains appetite control
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Leptin deficiency
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Results in Obese mice
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HLA DR3/DR4
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Type I- diabetes
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WNK2/WNK4 kinase deficiency
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Gordon syndrome -> ↑ renal salt reabsorption
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ENaC deficiency
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Liddle syndrome -> defective epithelial sodium channel
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NOTCH3 mutation
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Causes dementia
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Protein C + S mutation
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Promotes clotting -> stroke
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Factor V leiden
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↑ clotting
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