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genetic pt 3
exam 3
| Question | Answer |
|---|---|
| What kind of disease is Maple syrup urine disease? | metabolic disease |
| Why is maple syrup urine disease tested for in PA? | it is more common in amish, large amish population in pa |
| founders effect | small group of individuals becomes isolated from a larger population and forms new one with limited genetic variation |
| what kind of testing is used for maple syrup urine disease? | newborn screening-> heel stick |
| when is maple syrup urine disease diagnosed? | newborns- 24-48hrs |
| Leiden V | blood clotting disorder caused by a mutation in the F5 gene |
| what does the F5 gene do? | makes coagulation protein |
| what kind of inheritance is Leiden V? | autosomal dominant with incomplete penetrance |
| APC | inactivates coagulation factor V which slows down clotting process and prevent clots from growing too large |
| What happens in people with factor V leiden? | coagulation factor V cannot be inactivated normally by APC-> clotting process remains active longer than usual increasing chance of developing clots |
| heterozygous for leiden V | AG- 3-8x higher risk for DVT |
| homozygous for leiden V | AA- 30-140x higher risk for DVT |
| type of testing for Leiden V | genetic test for F5 mutation |
| multifactorial- other factors that contribute to Leiden V | oral contraceptives, hormone replacement therapy, selective estrogen receptor modulators, pregnancy, smoking, long car rides, bedrest, immobility, obesity, surgery |
| how is Leiden V treated? | healthier lifestyle, anticoagulants |
| pharmacogenomics that affect how Leiden V is treated | CYP2C9 variants, VKORC1 variants |
| CYP2C9 variant Leiden V | affects warfarin metabolism increasing bleeding risk |
| VKORC1 variant Leiden V | affects warfarin sensitivity |
| inheritance of alzheimers disease | autosomal dominant |
| effect of genetic factors on LOAD | increase risk, but don't cause |
| effect of genetic factors on early onset alzheimers | more likely to be genetic |
| What percent of cases is early onset alzheimers? | 3-5% |
| when does early onset alzheimers occur? | less than 65 years |
| types of early onset alzheimers | PSEN1, PSEN2, APP |
| APP | early onset, chromosome 21: closely related to down syndrome located on chromosome 21, leads to shifts in the proteolytic cleavage of DNA |
| PSEN1 early onset | chromosome 14- aggressive form of AD |
| PSEN2 early onset | chromosome 1- rare volga river basin of Russia |
| highest risk for developing LOAD | females, APOE34, mitochondrial risk haplotypes |
| late onset alzheimers | greater than 65 years |
| types of LOAD | APOE4, PSEN1, PSEN2 |
| APOE4 LOAD | closely related to down syndrome, located on chromosome 21, leads to shifts in the protective cleavage of APP |
| PSEN1 LOAD | chromosome 14- aggressive form of AD |
| PSEN2 LOAD | rare, volga river basin of russia |
| which is more sporadic, early or late onset? | late |
| pedigree red flags alzheimers | onset before 60, multiple affected family members across generations, several relatives with alzheimers at similar early ages, rapid progression |
| alzheimers- multifactorial | especially load, arises from combo of genetic, environmental, and lifestyle factors |
| chaperone genes | help other proteins fold correctly and assist in clearing damaged or aggregated proteins |
| misfolding of proteins | proteins misfold, lose their normal shape, and become sticky, they clump together and damage the brain |
| what causes the plaques in alzheimers? | APP gene mutation-> neurofibrillary tangles (tau aggregates) |
| how does the APP gene mutation cause plaques? | alternate cleavage pathway of APP, result in increased cleavage activity and the formation of amyloid plaques |
| what kind of mutation is the APP gene mutation? | gain of function |
| what is responsible for genetic COPD? | alpha one lung disease |
| it is recommended that everyone with COPD, bronchiectasis, or asthma that isn't controlled with usual meds be treated for? | alpha one antitrypsin disease |
| alpha one antitryspin disease- homozygous | high risk, earlier age of onset (especially if smoker) |
| alpha one antitryspin disease- heterozygous | increased susceptibility especially if smoker |
| alpha one antitrypsin disease | deficient or dysfunctional alpha 1 antitrypsin (AAT), a protein produced by the liver that protects lung tissue from neutrophil elastase |
| neutrophil elastase | an enzyme that breaks down elastin in the alveoli; preventing alveolar destruction |
| pathophysiology of alpha 1 antitrypsin disease | reduced or absent AAT allows unchecked elastase activity-> progressive destruction of alveolar walls-> early onset panacinar emphysema, especially in the lower lobes |
Created by:
camrynfoster