Genetic Disorders and Phenotypes

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Science
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1.
FLASHCARD QUESTION
Front
What is LHON and which subunit of complex I of the ETC is affected?
Back
LHON (Leber's Hereditary Optic Neuropathy) is caused by a substitution in the ND4 subunit of complex I of the electron transport chain (ETC).
Tags
NGSS.HS-LS3-2
2.
FLASHCARD QUESTION
Front
What is the role of TGF-beta in genetic disorders related to FBN1/Fibrillin?
Back
Defects in FBN1/Fibrillin lead to an increase in TGF-beta, which is associated with individuals having longer limbs.
3.
FLASHCARD QUESTION
Front
What are the specific traits associated with NF2?
Back
NF2 (Neurofibromatosis type 2) is characterized by cafe au lait spots and vestibular schwannomas.
4.
FLASHCARD QUESTION
Front
What genetic deletion is associated with Angelman syndrome?
Back
Angelman syndrome is associated with a maternal deletion of UBE3A or paternal uniparental disomy (UPD) of chromosome 15.
5.
FLASHCARD QUESTION
Front
What are the key features of Pallister-Killian syndrome?
Back
Pallister-Killian syndrome (Tetrasomy 12p) includes 'Boxer facies', speech delay or absence, diaphragmatic hernia, and streaks of hypo-hyper pigmentation.
6.
FLASHCARD QUESTION
Front
Define Genetic Disorder.
Back
A genetic disorder is a disease caused by an abnormality in an individual's DNA, which can be inherited or caused by mutations.
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, as determined by both genetic makeup and environmental influences.
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