Genetic Disorders and Phenotypes

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

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.

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.

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

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.

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

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.

Front

Explain the concept of gain of function mutations.

Back

Gain of function mutations result in a gene product with enhanced or new functions, often leading to dominant genetic disorders.

Front

What is the significance of mitochondrial DNA mutations?

Back

Mitochondrial DNA mutations can lead to a variety of disorders, particularly affecting energy metabolism, as seen in conditions like MELAS.

Tags

NGSS.HS-LS3-2

Front

What is the role of TGF-beta in connective tissue disorders?

Back

TGF-beta is a growth factor that regulates cell growth and differentiation, and its dysregulation can lead to connective tissue disorders like Marfan syndrome.