Term
| Medndelian traits are ____ traits |
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Definition
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Term
| Describe multifactorial traits |
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Definition
| result of genetic and environmental factors (chronic diseases); aka complex traits |
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Term
| Describe polygenic traits |
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Definition
| result of the action of more than one gene; rare |
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Term
| What are some characteristics of multifactorial diseases? |
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Definition
| can occur in isolation and does not follow inheritance pattern; influenced by environment; symptoms can be treated by not root cause |
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Term
| Describe quantitative trait loci |
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Definition
| result of many genes and vary in phenotype; continuous variation in population (skin color, height weight); distribution is a bell curve |
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Term
| What 3 things are considered to determine if someone has a multifactorial disorder? |
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Definition
| empiric risk, incidence and prevalence |
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Term
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Definition
| stat based on incidence in a specific population; increases with severity of disorder, # of family members effected |
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Term
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Definition
| rate that certain event occurs in population (# of new cases per year) |
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Term
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Definition
| proportion of people in population that has a certain disorder at a certain time |
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Term
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Definition
| genome wide association studies; method to map genes that contribute to multifactorial disorders; uses large population |
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Term
| The genes that cause Mendelian disorders are mapped through ____ |
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Definition
| pedigree analysis; track phenotype with genetic marker |
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Term
| What is the GWAS based on? |
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Definition
| common disease, common variant hypothesis; common diseases due to common genetic variants in the population that have a small effect on the phenotype |
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Term
| What is the most common type of marker used in GWAS? |
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Definition
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Term
| Describe a haplotype block |
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Definition
| block of chromosomes inherited at once |
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Term
| SNPs common in colon cancer patients are __ |
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Definition
| colon cancer gene markers; statistically seen more often in patients than in control group |
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Term
| Describe risk factor/ risk allele |
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Definition
| SNP with higher frequency in case group; associated with the disease |
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Term
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Definition
| increased risk of having the disease if you have one of the risk factors (carrier for SNP) |
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Term
| Describe exome sequencing |
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Definition
| sequencing the 3% of genes that are protein coding (exons); compare to reference sequence and to other exomes to find variants causing disease |
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Term
| Exome sequencing isnt' helpful for what? |
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Definition
| phenotypes caused by epigenetic alterations |
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Term
| AD is an example of what? |
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Definition
| multifactorial and mendelian disease |
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Term
| What are the risk factors of AD? |
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Definition
| HTN, high cholesterol, sedentary lifestyle, lack of mental activity |
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Term
| What two structures in the brain are a sign of AD? |
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Definition
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Term
| Describe beta Amyloid Plaques |
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Definition
| Caused from destruction of amyloid precursor proteins (cut into pieces); form in creas that encode memories (don't know if they're the cause of AD or a result of it) |
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Term
| Describe the formation of tangles |
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Definition
| the protein that stabilizes microtubules tangles leading to loss of microtubule stability; eventually neuron dies |
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Term
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Definition
| adutosomal dominant disorder that acts like classic mendilian disease; mutations in APP, PS1 and PS2 cause gain of function |
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Term
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Definition
| complex disease; ApoE4 allele is associated with it |
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Term
| Describe ApoE4 as risk factor for LOAD |
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Definition
| least effective at neuron repair maintenance; accounts for up to half of genetic risk for LOAD; having does not mean you MUST have LOAD |
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Term
| What are the 4 main causes of cancer? |
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Definition
| chemicals, radiation, heredity, infectious agents |
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Term
| Causes of cancer affect cells at the ___ level |
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Definition
| genetc; most carcinogens are mutagens |
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Term
ID cancer type:
every cell has a variant that increases susceptibility |
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Definition
| germline cancer (inherited) |
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Term
ID cancer type:
somatic cell acquires necessary mutations to induce tumorigenesis |
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Definition
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Term
| Cancer is defined by what two main abilities? |
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Definition
| ability of cells to proliferate uncontrollably and ability to spread to other tissues |
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Term
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Definition
| disorganized tissue growth, increase in # of dividing cells; tumor creation |
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Term
| tumors lose balance between cell ______ and _____ |
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Definition
| proliferation; differentiation |
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Term
ID tumor type:
tumors that grow in a confined area |
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Definition
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Term
ID tumor type:
can invade surrounding tissues and spread via metastasis |
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Definition
| malignant; cancer refers to this kind of tumor |
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Term
| Cell cycle is tightly controlled through a series of ____ |
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Definition
| cell cycle checkpoints; external factors stimulate the cell cycle; cancer occurs when cells lose control of the cycle |
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Term
| Describe the cell cycle control system |
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Definition
| set of molecules including growth factors that trigger and coordinate events of the cell cycle |
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Term
| Describe the effects of a growth factor at the G1 check point |
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Definition
| signal transduction pathway sends signal through series of relay molecules; signal reaches cell cycle control system to trigger entry to S phase |
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Term
| What are the 3 main types of genes that are the targets of cancer causing mutations? |
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Definition
| oncogenes; tumor suppressor genes; DNA repair genes; (first 2 are entry and exit of cell cycle) |
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Term
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Definition
| genes that normally trigger cell division; when activated at the wrong time become oncogenes |
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Term
| Alterations to oncogenes are ___ and lead to _____ |
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Definition
| dominant; gain of function |
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Term
| What happens if tumor suppressor genes are mutated? |
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Definition
| loss of function; recessive |
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Term
| What happens when DNA repair genes are mutated? |
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Definition
| accumulation of mutations occurs and increases likelihood of cancer |
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Term
| Cancer results from the gradual accumulation of mutation in ___ cells |
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Definition
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Term
| What are the 10 hallmarks of cancer? |
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Definition
| uncontrollable growth, evading growth suppressors, evading cell death, obtaining nutrients, immortal, invading tissues, escaping immune destruction, reprogramming metabolism, promote genetic instability, tumor promoting |
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Term
| Many cancer cells have a mutation in what that turns on a signal that tells cells to divide? |
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Definition
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Term
| Describe pRB retinoblastoma protein |
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Definition
| tumor suppression protein that inhibits progression through cell cycle; mutation leads to loss of function; 1st TSG to be ID |
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Term
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Definition
| rare childhood cancer of the eye, missing part of chr 13, 90% of cases can be cured |
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Term
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Definition
| point mutation or deletion taht takes out function of the gene |
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Term
| How many hits are necessary to inhibit Rb function? |
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Definition
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Term
| 10% of breast cancers can be traced to an inherited mutation in what? |
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Definition
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Term
| BRCA genes are involved in what? |
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Definition
| DNA repair; mutations hamper DNA repair and lead to additional mutations |
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Term
| What is the gatekeeper for apoptosis |
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Definition
| p53; triggers apoptosis in response to DNA damage and other signals |
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Term
| Angiogenesis is induced by what? |
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Definition
| vascular endothelial growth factor; released by tumor to stimulate growth of nearby endothelial blood vessels |
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Term
| Telomeres protect chromosomes from what? |
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Definition
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Term
| In what 3 ways do cancer cells evade the immune system? |
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Definition
| don't display surface molecules; swallow surface molecules, suppress immune cells |
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Term
| What are the 3 main paths to genomic instability? |
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Definition
| replication mistakes, mistakes during meiosis, defective DNA repair |
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Term
| Alterations in how many cells are needed to establish cancer? |
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Definition
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Term
| Describe tumor promoting inflammation |
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Definition
| immune cells infiltrate tumors and release growth factors that cause inflammation but can help cancer cells avoid cell death; inflammatory cells release reactive O species that can cause cancer to be more aggressive |
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Term
| Cancer's alteration of genes include mutations and what else? |
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Definition
| changes in level of expression of genes, not the function |
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Term
| What are 3 genomic approaches to studying cancer? |
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Definition
| GWAS, whole genome sequencing, and exome sequencing |
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Term
| What are the two main needs for genetic counseling? |
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Definition
| prenatal genetic counseling, family history of inherited disease (rare mendelian or single gene disorders) |
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Term
| Describe preconception comprehensive carrier testing |
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Definition
| test that detects recessive disease |
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Term
| Describe prenantal testing |
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Definition
| testing a fetus for genetic disease; amniocentesis, cvs, free fetal DNA sequencing (best) |
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Term
| Describe newborn screening |
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Definition
| tests for inborn errors of metabolism; heel stick for blood analyzed for biochemicals; missing enzymes can be replaced |
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Term
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Definition
| replace defective gene with healthy one, best for single gene disorders |
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Term
| Describe germline gene therapy |
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Definition
| alters DNA of gamete or zygote so ALL cells of person are changed; not currently done in humans |
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Term
| Describe somatic gene therapy |
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Definition
| target only effected cells in person (lungs), not passed down to next generation |
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Term
| What are the two major challenges of somatic gene therapy? |
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Definition
| delivering healthy gene to correct cells and controlling gene expression |
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Term
| What are the two general strategies for somatic gene therapy? |
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Definition
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Term
| What is the downside of using viral vectors in gene therapy? |
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Definition
| can trigger the immune system or integrate into chromosomes and activate proto-oncogenes |
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Term
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Definition
| new gene therapy that uses CRISPR Cas9 system to cut DNA at specific site and new DNA is inserted in its place |
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Term
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Definition
| online mendelian inheritance in man; resource for mendelian disorders with genotype and phenotype relationships |
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Term
| What are some indications for BRCA 1/2 testing? |
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Definition
| early onset BC, known mutation in family, male breast cancer |
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Term
| What are the two types of BRCA testing? |
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Definition
| targeted mutation analysis (associated with ashkenazi jewish ancestry) and comprehensive analysis (common BRCA mutations) |
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Term
| pharmacogenetic testing could provide us with what information? |
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Definition
| increased change of suffering or adverse reaction to a drug, select most effective drug, monitor response and predict prognosis |
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Term
| What was the first example of pharmacogenetics affecting medical practice? |
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Definition
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Term
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Definition
| Cytochrome P450; produce enzymes active in the liver and effect drug metabolism; 57 different types and each person can have variations of each |
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Term
| What are the 4 classes of CYP phenotypes? |
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Definition
| poor, intermediate, normal and ultra rapid metabolizers |
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Term
| Codeine is converted into what? |
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Definition
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Term
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Definition
| SNPs in CYP can decrease activity slowing conversion to morphine and reducing effectiveness (PM) or speed it up and cause toxicity (URM) |
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Term
| Describe BDNF and antidepressants |
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Definition
| involved in preventing neuron death; females with an SNP respond rapidly to antidepressants compared to those who don't |
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Term
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Definition
| enzyme for detoxing chemo drugs; helps metabolize thiopurines in chemo drugs; low levels can lead to drug toxicity |
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Term
| Where can you find info on specific drugs, genes or conditions? |
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Definition
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Term
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Definition
| direct to consumer marketers of genetic info; will provide you with your genetic info for a fee; not regulated like those who give genetic tests |
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Term
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Definition
| Ethical legal and social issues; some states have non genetics discrimination bills for health insurance/employment; issues with DTC regarding accuracy and who has access to the info |
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Term
| The genetic mosaicism exhibited by humans is similar to x chromosome inactivation mosaics in what way? |
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Definition
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Term
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Definition
An individual has 2 or more genetically
distinct cell lines that originated from
different zygotes |
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Term
T/F:
Individuals are made of a population of cells; each population has its own genome |
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Definition
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Term
| Describe how microchimerism is acquired |
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Definition
| single fertilized cell replicates many times, populations of cells accumulate mutations |
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Term
| What major challenges does mosaicism pose to genetic testing? |
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Definition
| can't assume cells tested are representative for the rest of the patient's cells; issues for forensic analysis: sperm and saliva of one person did not match each other |
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Term
| Describe comparative genomics |
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Definition
| studies genome of different species and searches for similarities and differences; similar ones are conserved |
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Term
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Definition
| distinct communities of organisms living in or on the body; outnumber human cells 9:1 |
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Term
| Describe the human microbiome project |
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Definition
| surveys microbiota found in 7 different human tissues |
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