Terminology - Final Exam

Question 1

Autosomal Dominant Inheritance

Answer 1

50% chance of offspring being affected
Example: Huntington’s Disease

Question 2

Autosomal Recessive Inheritance

Answer 2

25% chance of offspring being affected
Examples: Cystic Fibrosis + Tay-Sachs Disease

Question 3

X-linked Recessive Inheritance

Answer 3

Abnormal gene is located on the X chromosome.
Example: Hemophilia

Question 4

Sickle Cell Anemia

Answer 4

• Distortion of Red Blood Cells
• African Ancestry
• Recessive

Question 5

Cystic Fibrosis

Answer 5

• Thick mucous production clogs in bronchial tree and pancreatic ducts
• European Ancestry
• Recessive

Question 6

Tay-Sachs Disease

Answer 6

• Degeneration of neurons and nervous system, causing death by 2 y/o
• Jewish Ancestry
• Recessive

Question 7

Phenylketonuria (PKU)

Answer 7

• Lack of enzyme leading to severe mental and physical disability
• Recessive

Question 8

Huntington’s Disease

Answer 8

• Uncontrollable muscle contractions followed by memory and personality loss
• Dominant

Question 9

Hemophilia

Answer 9

• Impairment of clotting factor
• X-linked

Question 10

Duchenne’s Muscular Dystrophy

Answer 10

• Muscle degeneration and dysfunction
• Often fatal by 20 y/o r/t cardiac muscle
• X-linked

Question 11

Carrier Testing

Answer 11

Provides information about risk for having child with genetic condition

Question 12

Prenatal Testing

Answer 12

Early detection of genetic disord

Question 13

Newborn Screening

Answer 13

Detect genetic disorders that can be treated early in life

Question 14

Teratogen

Answer 14

Drugs, viruses, infections, or other exposures that have potential to cause fetal/embryonic developmental abnormalities

Question 15

Puberty

Question 15

Puberty

Question 15

Puberty