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What result does inhibition of Na+/K+ pump have on Na+/Ca2+ exchange?
Makes it less favorable, so more intracellular calcium, so better contractility
What posttranslational modification takes place on collagen in the ER?
Hydroxylation of proline and lysine residues
After glycosylation, procollagen forms. What is the structure of procollagen?
triple helix of 3 α chains
After hydroxylation and glycosylation, what happens to procollagen?
Exocytosis into extracellular space
Once in the extracellular space, what happens to procollagen?
Cleavage of terminal regions (trimming) to form insoluble tropocollagen
Staggered tropocollagen molecules are bound together by bonds between what residues?
Name 4 presenting symptoms of osteogenesis imperfecta
Dental imperfections (due to lack of dentin)
A defect in type III collagen causes what 3 symptoms?
Tendency to bleed
What 3 conditions are associated with Ehlers-Danlos syndrome?
Abnormalities in the basement membrane causes what symptoms? (3)
Ocular disturbances (sometimes)
Give an example of incomplete penetrance
2 people with the gene for a specific disease, only one has symptoms
Give an example of imprinting
Prader-Willi and Angelman's syndrome (depends which parent gives the disease)
Give an example of loss of heterozygosity
Mutation in tumor suppressor gene, complementary allele must be deleted before cancer develops
Give an example of a dominant negative mutation
Nonfunction protein formed by mutation also keeps normal protein from binding
Give an example of locus heterogeneity
Marfan's, MEN2B, homocystinuria, all cause marfinoid habitus.
Both normal and mutated mtDNA are present, so variable expression in mitochondrial diseases
Define uniparental disomy
Offspring receives 2 copies of a chromosoem from one parent, none from the other
Hardy-Weinberg theory assumes what 4 things?
1. No mutation at locus
2. No selection for any genotypes at locus
3. No migration
4. Completely random mating
One allele is defective, but the other "backup" allele is deleted, so the defect becomes clinically significant
Name a syndrome caused by a deleted paternal allele. Describe the symptoms.
Name a syndrome caused by a deleted maternal allele. Describe the symptoms.
In an autosomal recessive disease, what percent of offspring from 2 carrier parents are affected?
In an x-linked recessive disease, what is the likelihood of a son of a heterozygous mother being affected?
Who can be affected by an x-linked dominant disorder?
Either male or female offspring of mother
ALL female offspring of affected father
Give 3 examples of a mitochondrial linked disorder. What are its symptoms?
Leber's hereditary optic neuropathy (acute loss of central vision)
ALL show "ragged red fibers"
What are the blood cholesterol levels of a heterozygote with Familial Hypercholesterolemia? How about a homozygote?
300 or so
700 or so
Describe the tetrad of symptoms in Osler-Weber-Rendu syndrome (hereditary hemorrhagic telangiectasia)
2. Recurrent epistaxis
3. Skin discolorations
4. Arteriovenous malformations
What are two other possible symptoms found in Von Recklinghausens' disease?
Optic pathway gliomas
What are the dermatologic symptoms of Tuberous Sclerosis?
"Ash Leaf Spots" on skin (white)
What are the ocular/neurologic symptoms of Tuberous Sclerosis?
Cortical and retinal hamartomas
Half of the individuals who have von Hippel-Lindau disease develop carcinomas where?
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