Describe the mode of inheritance, specific metabolic alteration, and the clinical
symptoms/consequences of familial hypercholesterolemia
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- autosomal dominant
- LDL receptor defect/can't remove LDL
- premature atherosclerosis
Describe the mode of inheritance, the specific metabolic pathway affected, the
enzyme defect, the clinical manifestations, and the treatment for phenylketonuria
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- autosomal recessive
- defect in enzyme that breaks down phenylalanine
- builds up and causes brain damage
, - treated by dietary changes
- newborn screening
Explain the differences between Prader-Willi and Angelman syndrome
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Prader-Willi
- mental retardation
- short stature
- hypotonia
- obesity
- hypogonadism
- deletion is PATERNAL
- silenced maternal
Angelman
- mental retardation
- ataxic gait
- seizures
- inappropriate laughter
- deletion is MATERNAL
- silenced paternal
tuberculo
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small lump
describe the function of tumor suppressor genes
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- normally suppress uncontrolled growth
- when mutated, the transformed phenotype appears
- both alleles usually have to be damaged but SOMETIMES haplosufficient
myo
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muscle
ana
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up; back; again
What class of proteins put brakes on the cell cycle?
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CDKIs
karyotyping definition
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- analyzing a whole chromosome
- sources: lymphocytes, cells entering mitosis, chromosomes separated
from cells, etc.
List and describe the steps in metastasis
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-liberation
-invasion
-transfer as emboli
-adhesion at endothelium
-migration from vessel
-survival (angiogenesis)
-multiplication/growth
Describe how tissue destruction occurs in neoplasm
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- tissue breakdown by pressure or invasive tumor properties
- bone destruction can lead to fractures and hypercalcemia
spondylo
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symptoms/consequences of familial hypercholesterolemia
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- autosomal dominant
- LDL receptor defect/can't remove LDL
- premature atherosclerosis
Describe the mode of inheritance, the specific metabolic pathway affected, the
enzyme defect, the clinical manifestations, and the treatment for phenylketonuria
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- autosomal recessive
- defect in enzyme that breaks down phenylalanine
- builds up and causes brain damage
, - treated by dietary changes
- newborn screening
Explain the differences between Prader-Willi and Angelman syndrome
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Prader-Willi
- mental retardation
- short stature
- hypotonia
- obesity
- hypogonadism
- deletion is PATERNAL
- silenced maternal
Angelman
- mental retardation
- ataxic gait
- seizures
- inappropriate laughter
- deletion is MATERNAL
- silenced paternal
tuberculo
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small lump
describe the function of tumor suppressor genes
,Give this one a try later!
- normally suppress uncontrolled growth
- when mutated, the transformed phenotype appears
- both alleles usually have to be damaged but SOMETIMES haplosufficient
myo
Give this one a try later!
muscle
ana
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up; back; again
What class of proteins put brakes on the cell cycle?
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CDKIs
karyotyping definition
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- analyzing a whole chromosome
- sources: lymphocytes, cells entering mitosis, chromosomes separated
from cells, etc.
List and describe the steps in metastasis
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-liberation
-invasion
-transfer as emboli
-adhesion at endothelium
-migration from vessel
-survival (angiogenesis)
-multiplication/growth
Describe how tissue destruction occurs in neoplasm
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- tissue breakdown by pressure or invasive tumor properties
- bone destruction can lead to fractures and hypercalcemia
spondylo
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