A/47 Flashcards
1
Q
What are the types of genetic disorders?
A
- Mendelian disorders
- Diseases with complex, multigenic inheritance
- Chromosomal abnormalities
2
Q
2 aspects to look at in genetic diagnosis
A
- physical characteristics and family history
- laboratory tests
3
Q
Laboratory testing types?
A
- molecular
- chromosomal
- biochemical
4
Q
Types / reasons for genetic testing? (5)
A
- Newborn screening
- Diagnostic screening
- Carrier testing
- Prenatal testing
- Predictive and presymptomatic testing
5
Q
What do you look for genetically for Huntington’s?
A
look for CAG tandem repeats on chromosome 4
6
Q
Example of a disease that you identify using enzyme activity
A
Tay-Sachs
7
Q
Limitations of genetic tests?
A
- no info on presence of symptoms
- no info on how severe the symptoms will be
- if the disorder will progress over time
8
Q
What do we use for karyotyping? (2)
A
- Giemsa
- FISH
9
Q
What does tay-sachs cause?
A
cutaneous photosensitivity, acute neurovisceral crisis
10
Q
What is the PAI-1 gene mutation? (3)
A
- increased risk for coronary heart disease
- ischemic stroke
- venous thrombosis
