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34 Cards in this Set
- Front
- Back
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Codominance
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full expression of both alleles o a gene pair in a heterozygote
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Penetrance
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percentage of individuals carrying an autosomal dominant gene and expresing the trait
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Pleiotropism
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multiple end effects of a single mutant gene
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Variable expressivity
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variable expression of autosomal dominant trait in affected individuals
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Autosomal Dominant Disorders
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-mutations affect strucutural and regulatory proteins
-reduceed penetrance and variable expressivity -onset later than AR |
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Autosomal Recessive Disorders
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-inborn errors of metabolism
-age of onset early in life -affects enzyme proteins instead of structural proteins |
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Phenylketoneuria
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-Reduction in phenylalanaine hydroxylase
-Accumulation of substrate(phenylalanine) |
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Albinism
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-decreased amount of end product (melanin)
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Emphysema\Liver disease
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-Absence of an important regulatory component
-alpha-1-antitrypsin |
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Marfan Syndrome
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-defect in strucutural proteins (fibrilin-1)
-15q21.2 -dominant negative effect-on deposition of elastin -tall with long extremities -bilat. dislocation of lenses -dissecting aneurysm - |
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Ehlers-Danlos
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-defects in collagen synthesis
-skin-hyperextenible an fragile -joints-prone to dislocation -internal complications-rupture of colon and large arteries |
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Classical EDS I/II
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-skin and joint hypermobility
-atrophic scars -easy bruising -AD -COL5A1 an COL5A2 |
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Hypermobility EDS III
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-joint hypermobility
-pain -dislocations -AD |
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Vascular EDS IV
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-thin skin
-arterial rupture -bruising -AD -COL3A1 |
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Kyphoscoliosis EDS
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-hypotonia
-scoliosis -AR -lysyl hydroxylase |
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Arthrochalasia EDS VIIa,b
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-AR
-bruising -COL1A1 -COL1A2 -joint hypermobility |
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Dermatosporaxis EDS VIIc
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-skin fragility
-cutis laxa -bruising -AR -procollagen N peptidase |
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Familial Hypercholesterolemia
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-mutation in gene enoding LDL receptor
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Class I Hypercholesterolemia
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-impaired transcription
-defective LDL receotr synthesis |
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Class II Hypercholesterolemia
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-prevents transport of synthesized LDL receptors from ER to Golgi for export
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Class III Hypercholesterolemia
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LDL receptor protein with reduced binding capacity
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Class IV Hypercholesterolemia
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proteins can bind LDL but not internalize it
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Class V Hypercholesterolemia
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LDL receptors are expressed and internalzed but can't be recycled
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Tay-Sachs Disease
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-Lysosomal storage disease
-defective hexoseaminidase -prevents GM2 ganglioside degredation -motor and mental retard. -death by 2 -cherry-red spot in retina |
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Pompe Disease
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-AR
-alpha-1,4-glucosidase deficiency -glycogen accumulation |
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Gaucher Disease
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-AR
-glucocerebrosidase deficiency -accumulation of glucocerebrosides |
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Neimann-Pick Disease A,B
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-sphingomyelinase deficiency
-acc. of sphingomyelin -retinal cherry-red spot |
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MPS I Hurler
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-Ar
-alpha-L-iduronidase def. -dermata sulfate, heparan sulfate acc. |
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MPS II Hunter
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-x-linked
-L-iduronosulfate sulfatase -dermatan sulfate,heparan sulfate acc. |
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von Geirke Disease
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-glycogen storgage disorder
-hepatic form glucose-6-phosphatase def. -hepatomegaly -renomegaly -glycogen acc. -hypoglycemia |
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McArdle Disease
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-muscle phosphorylase def.
-glycogen acc. in muscle -painful cramps after exercise -muscle weakness -absence in exercise induced rise in blood lactate level |
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Alkaptonuria
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-homogentisic oxidase def.
-acc. of homogentisic acid -ochronosis -black urine -articular cartilage deposition (arthropathy) |
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NFT 1
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-AD
-multiple neural tumors --cutaneous,subcutaneous,plexiform -cutaneous pigmentation --cafe au lait spots -Lisch nodules --pigmented hamartomas -chromosome 17 encodes-neurofibromin-downregulates p21 oncoprotein -tumor-supressor |
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NFT II
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-AD
-Bilat. acoustic nerve tumors -gliomas -cafe au lait spots -*bsence of Lisch nudules* -chromosome 21 encodes-merlin-inhibits Schwann cell prolif. -tumor-supressor |
