Misc. 1 Flashcards
What does GINA protect?
- employment
- health insurance
What does GINA not protect?
- life insurance
- disability
- long term care
For GINA, what is not considered genetic info?
- sex
- age
- routine tests
- DNA of infectious agents
- pre-existing conditions (even if they are genetic)
For HIPAA, what geographical identifiers are protected?
anything smaller than state (ie county, zip code, etc)
Retinitis pigmentosa
- description
- cause
- abnormalities in rods, cones, or retinal pigment epithelium lead to progressive visual loss in early adulthood
- caused by mutations in >50 genes
Age-related macular degeneration
- description
- cause
- vision loss late in life
- multifactorial; many genes may be implicated
What is the most common UPD mechanism?
trisomic rescue
What arm(s) do pericentric inversions involve?
both
What arm(s) do paracentric inversions involve?
one
What is an example of a common pericentric inversion that is a polymorphism?
inv(9)(p11q13)
Does it matter from which parent the extra material in triploidy comes from?
yes
What is the recurrence risk for a reciprocal translocation when a parent is a carrier? Exceptions?
~20%
but 9p and distal 4p and 5p hvae a higher recurrance risk of ~30%
What is pachytene?
crossing over
What percentage of inversions are inherited?
90%
For what type of cancer does external beam radiation increase risk?
osteosarcoma