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34 Cards in this Set

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

-chromosome 17 encodes-neurofibromin-downregulates p21 oncoprotein
-Bilat. acoustic nerve tumors
-cafe au lait spots
-*bsence of Lisch nudules*
-chromosome 21 encodes-merlin-inhibits Schwann cell prolif.