Applied Genetics in Medicine Flashcards
What is the first step in diagnosis for population screening?
Confirmatory testing
What is the goal behind population screening?
Allow intervention of affected individuals and/or more informed reproductive decisions in carriers
Which of the following newborn screening test is not required in all 50 states?
- Phenylketonuria
- Galactosemia
- Hypothyroidism
- Hemoglobinopathies
*Hemoglobinopathies
What is Phenylketonuria?
Inability to process AA phenylalanine
What can Phenylketonuria cause if not treated early?
Mental impairment
Who developed the method to diagnose Phenylketonuria?
Robert Guthrie
What causes Cystic Fibrosis?
Abnormal transport of chloride in alveolar epithelium leading to thickened secretions + pulmonary infections
What kind of screening is involved for Cystic Fibrosis?
Heterozygote Screening
What mutation causes Cystic Fibrosis?
F508; causes loss of phenylalanine
Prenatal screening is (invasive/non-invasive)
Both
How is non-invasive prenatal screening done?
Detectable at 6 to 8 weeks using cell-free DNA from fetal tissue
Is non-invasive prenatal screening a confirmation of a particular diagnosis?
No, still requires amnio or chorionic villus sampling (invasive)
BRCA1 and BRCA2 mutations are more prevalent in what ethnicity?
Scandinavians + Askenazi Jewish descent
APOE protein transports what?
Lipids, particularly cholesterol
Which allele of APOE gene increases risk for cardiovascular disease?
epsilon 4 allele (ε4)
Besides cardiovascular diseases, what else does epsilon 4 allele cause?
Alzheimer’s disease risk
Risk due to APOE4 (for Alzheimer’s) is higher in which race?
Asians
What percentage of Alzheimer’s pts are APOE4 negative?
1/3
What percentage of drugs are associated w/ severe adverse drug reactions (SADRs)?
15%
How can you treat for long QT syndrome?
Block Calcium & Sodium
Why is it hard to treat hypertension via ACE inhibitors or Beta-blockers?
None of the variants are commonly tested
ACE inhibitors - if pt is homozygote (recessive), they are responsive to inhibitors due to having reduced activity because of deletion
What is an example of a variant w/ BROAD effects?
CYP2D6; affects metabolism of more than 25% of pharmaceuticals
Rather than race, which is a better predictor of ancestry?
Genetic information
What is sensitivity?
Ability to detect true positives
