Genetic Disorders

What is the inheritance pattern of Huntington’s disease?

• Autosomal recessive

• Autosomal dominant

• X-linked recessive

• Mitochondrial

Tags

NGSS.HS-LS3-1

At what age do symptoms of Huntington’s disease usually appear?

• Infancy

• Early childhood

• Middle adulthood

• Elderly years

What part of the brain is primarily affected in Huntington’s disease?

• Hippocampus

• Cerebellum

• Medulla oblongata

• Basal ganglia

Which disorder involves the accumulation of thick, sticky mucus in the lungs and pancreas?

• PKU

• Cystic Fibrosis

• Sickle Cell Disease

• Huntington’s

Cystic fibrosis is caused by a mutation in gene that codes for:

• CFTR

• HbB

• LDLR

• HTT

Tags

NGSS.HS-LS3-2

What is the inheritance pattern of cystic fibrosis?

• Autosomal dominant

• Autosomal recessive

• X-linked dominant

• Mitochondrial

Tags

NGSS.HS-LS3-2

What is the primary symptom of PKU if untreated?

• Lung infections

• Muscle weakness

• Intellectual disability

• Uncontrolled bleeding

Which food component must be restricted in individuals with PKU?

• Lactose

• Phenylalanine

• Gluten

• Starch

PKU is screened for in newborns using what kind of test?

• MRI

• Amniocentesis

• Heel prick blood test

• Ultrasound

Familial Hypercholesterolemia is caused by a mutation affecting:

• Blood clotting

• Phenylalanine metabolism

• LDL receptor function

• Cystic fibrosis transmembrane conductance

Tags

NGSS.HS-LS3-2