A/47

Question 1

What are the types of genetic disorders?

Answer 1

• Mendelian disorders
• Diseases with complex, multigenic inheritance
• Chromosomal abnormalities

Question 2

2 aspects to look at in genetic diagnosis

Answer 2

• physical characteristics and family history

- laboratory tests

Question 3

Laboratory testing types?

Answer 3

• molecular
• chromosomal
• biochemical

Question 4

Types / reasons for genetic testing? (5)

Answer 4

• Newborn screening
• Diagnostic screening
• Carrier testing
• Prenatal testing
• Predictive and presymptomatic testing

Question 5

What do you look for genetically for Huntington’s?

Answer 5

look for CAG tandem repeats on chromosome 4

Question 6

Example of a disease that you identify using enzyme activity

Answer 6

Tay-Sachs

Question 7

Limitations of genetic tests?

Answer 7

• no info on presence of symptoms
• no info on how severe the symptoms will be
• if the disorder will progress over time

Question 8

What do we use for karyotyping? (2)

Answer 8

• Giemsa

- FISH

Question 9

What does tay-sachs cause?

Answer 9

cutaneous photosensitivity, acute neurovisceral crisis

Question 10

What is the PAI-1 gene mutation? (3)

Answer 10

• increased risk for coronary heart disease
• ischemic stroke
• venous thrombosis