Genetic Disorders and Phenotypes
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Science
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Hard
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1.
FLASHCARD QUESTION
Front
What is the two-hit hypothesis in relation to genetic disorders?
Back
The two-hit hypothesis suggests that two mutations (hits) are required to cause a genetic disorder, often seen in conditions like polycystic kidney disease.
Tags
NGSS.HS-LS3-2
2.
FLASHCARD QUESTION
Front
What are the main characteristics of Leigh Syndrome?
Back
Leigh Syndrome is characterized by progressive neurodegeneration, hypotonia, developmental delay, optic atrophy, and respiratory abnormalities.
3.
FLASHCARD QUESTION
Front
What causes Leigh syndrome at the molecular level?
Back
Leigh syndrome is caused by point mutations in the ATPase subunit 6, which is encoded by the ND5 gene.
4.
FLASHCARD QUESTION
Front
What does paternal anticipation mean in the context of myotonic dystrophy?
Back
Paternal anticipation refers to the phenomenon where the severity of myotonic dystrophy increases with each generation when inherited from the father.
Tags
NGSS.HS-LS3-1
NGSS.HS-LS3-2
5.
FLASHCARD QUESTION
Front
How do defects in FBN1/Fibrillin affect limb length?
Back
Defects in FBN1/Fibrillin lead to an increase in TGF-beta, which is associated with individuals having longer limbs.
6.
FLASHCARD QUESTION
Front
Define genetic disorder.
Back
A genetic disorder is a disease caused by abnormalities in an individual's DNA, which can be inherited or occur spontaneously.
Tags
NGSS.HS-LS3-2
7.
FLASHCARD QUESTION
Front
What is a phenotype?
Back
A phenotype is the observable physical or biochemical characteristics of an organism, determined by both genetic makeup and environmental influences.
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