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GN 301 Exam 3
NCSU Gardner
| Term | Definition |
|---|---|
| Quantitative Traits | - many genes control the trait -effect of gene is small -effects of genes add together -env. influences phenotype -discrete genotypic distribution |
| Multifactorial Traits | 1. Expression depends on the additive effects of a number of genes 2. Effect if each gene is small 3. Env. plays an important role in expression of trait |
| Threshold Traits | Accumulate risk factors based in genotype. If risk facotrs exceed a threshold, disorder is seen |
| Monozygotic Twins | Identical |
| Dizygotic Twins | Fraternal |
| When do most identical twins separate? | Between day 5-9 (66%) |
| Difference between identical and fraternal? | Fraternal is inherited, identical is not |
| Super Twins | Identical and Fraternal |
| Heritability | The proportion of phenotypic variation that is due to genetic effects (rest from env.) |
| V p | variance in phenotype |
| V g | variance in genes |
| V e | variance in env. |
| Concordance | twins same for trait |
| Concordance using twin studies | % concordance indicates a percentage of that twin group that showed the same phenotype |
| Limitations of heritability | Does NOT say how much genes affect the trait (DOES say how much genes affect the variation in the trait) |
| GWAS | Genome Wide Association Studies- scan entire genome and identify genes that are associated with quantitative traits |
| Techniques used in GWAS | -Gene Chip (microarray)- shows which SNP's are present -Manhattan plot shows all human chromosomes on X axis |
| What does IQ measure? | spatial visualization, word fluency, mathematical reasoning, verbal comprehension, ability to memorize, inductive reasoning |
| How is IQ calculated? | perform graded tests- "mental age" calculated- mental age/real age = intellectual age (IQ) |
| Average IQ | 100 (2/3 pop 85-115) |
| Intellectually disabled/gifted scores? | Disabled- less than 70 Gifted- greater than 125 |
| Genetic Causes of Intellectual Disabilities | single gene, polygenic, chromosomal |
| Single Gene examples | PKU, Galactosemia, Hurler Syndrome, Tay-sachs, Rett Syndrome |
| Polygenic | Combination of unfavorable alleles |
| Chromosomal effect | Trisomic (Down Syndrome), Fragile Syndromes, William Syndrome |
| Environmental Factors for Intellectual Disabilities | Prenatal, perinatal, postnatal |
| Prenatal | infections, drugs, medicines, alcohol, smoking, maternal health |
| Perinatal | O2 deprivation, premature, preterm |
| Postnatal | protein deficiency |
| Rate of being hospitalized for mental health disorder | 1/10 |
| Brain | 3 lbs, 100 billion nerve cells, 1 trillion neuroglia cells |
| Purpose of Neuroglia cells | guide development and movements produce nerve growth factors |
| Synapse | space of transmission for neurons |
| Neurotransmitters | dopamine, norepinephrine, serotonin |
| 4 Areas of Gene Action | 1. Production of myelin sheath 2. Synthesis of neurotransmitter 3. Transporter protein in sending cell 4. Receptor protein in receiving cell |
| Parkinson's Disease | -lose control over muscles -can't properly metabolize dopamine |
| Epilepsy | Sudden disruption in electrical communication between nerve cells |
| Autism Spectrum | Impaired communication |
| Narcolepsy | short deep sleep |
| Alzheimer's Disease | -progressive memory loss -beta amyloid protein |
| Addiction | compulsive physiological and psychological need for a habit forming substance |
| Alcoholism | -genetics and environment -Children of alcohol. 4x times more likely to become one |
| Eating disorders | anorexia nervosa, bulimia nervosa, binge eating |
| Schizophrenia | altered perception of reality |
| Bi-Polar Disorder | more than 1 type x-linked dominant |
| Population genetics | Study of inherited within and between population |
| Hardy-Weinberg Law | Allele and genotypic frequencies will arrive at and remain at equilibrium frequencies after one generation of random mating if all assumptions below are met |
| HW Law Conditions | -Infinitely large population -panmictic -no selection -no migration -no mutation |
| Evolution | Changes in genetic composition of a population |
| Forces that cause genetic change | mutation, migration, selection, small population size |
| Mutation | importance from an evolutionary point of view- source of variability |
| Antigen | substance that stimulates production of antibody, "foreign" |
| Antibody | Made in response to entry of foreign protein, coded for by genes |
| Mismatch blood reactions | severe clumping-blocks O2 and destroys red blood cells, Minor clumping- not ideal but ok |
| Rh Locus | Positive allele is dominant to negative allele |
| Donation rules | + -> - NO - -> + YES |
| Hemolytic Disease | Rh-, death, anemia, jaundice, heart failure, intellectual disabilities |
| RhoGAM treatment | RhoGAM is given to Rh- mom within 72 hrs after having Rh+ baby delivery |
| MN Locus | M and N are codominant to each other |
| ABO Locus | A and B are codominant to each other A and B are dominant to O |
| Rh Locus | Rh+ is dominant to Rh- Rh+ causes antigen on blood cells |
| T Cells | Cell mediated immunity |
| B Cells | Secrete antibodies |
| Structure of antibody | Chains held together by disulfide bonds |
| Somatic Recombination | DNA parts are removed and remaining parts are joined together |
| Junctional Diversity | Different cells that put the same regions together in processing do it differently |
| Autoimmune Disorders | Type 1 diabetes, Rheutoid Arthritis, Lupus, Addison's disease, Grave's disease |
| Bruton's Disease | X-linked, T cells but no B cells (no antibodies) |
| SCID | Missing T and B cells, 1 type is mussing adenosine deaminase enzyme |
| Autograft | donate to yourself |
| Allograft | one person to another |
| Isograft | between identical twins |
| Xenograft | from another species |
| HLA | Human Leukocyte Antigen, should match to donate organs, organ can be rejected |
| Haplotype | array of HLA alleles on a given chromosome #6 |
| Transplant Tourism and Ethical Issues | exploiting poor, forced donation, black market sales, complication from foreign surgery, organ trafficking |
| Properties of Stem Cells | -Divide continuously (immoral) -Produce more cells like itself -Can differentiate to specialized tissue |
| Embryonic (stem cells) | Potential to differentiate into many/most tissue types |
| Adult (stem cells) | More limited as to types of tissues they can become |
| Cell Cycle Checkpoints | G1/S- proper cell size and undamaged DNA G2/M- holds cycle until replication and DNA repair done M- proper spindle formation and attachment |
| Cancer | mass of tissues/cells with unlimited potential to divide/grow and serving no useful function in the body |
| Leukemia | -Abnormally large number of WBC made by bone marrow -common in children |
| Lymphoma | -Abnormally large number of WBC made by spleen and lymph nodes -Hodgkin disease, 50% of all cancers |
| Carcinoma | -Solid tumor from epithelial tissue -skin, breast, respiratory, colon, urinary |
| Sarcoma | -Solid tumors from embryonic mesoderm tissue -bone, cartilage, muscle, fat |
| Hyperplasia | -uncontrolled cell division -immortal and invasive |
| Anaplasia | -structure/function of cell is undifferential |
| Metastasis | -ability to move to establish tumors at other sites in body |
| Benign | abnormal cells stayed localized and do not invade surrounding tissue |
| Malignant | Cancer cells invade surrounding cells |
| Metastic | cancer cells spread and establish secondary tumors in other sites in the body |
| Factors that influence cancer | genetic: single, polygenic, chrom. aberration, mutation env: can cause mutations- alter gene expression |
| Tumor Supressor | stops bad cells- brake |
| Proto-Oncogenes | allow good cells- gas pedal |
| Two Hit Hypothesis | Both copies have to be defective in same cell for tumor to develop |
| Tumor Suppressor Genes | BRCA1- breast and ovarian P53- many RB- retinoblastoma |
| Apoptosis | cell death |
| Haploinsufficiency | diploid organism has the loss of function of one copy of a gene and left with only 1 functional gene, not enough for wild-type phenotype |
| Burkitt's lymphoma | wrong function of B cells, reciprocal translocation |
| Chronic Myelogenous Leukemia | fatal, uncontrolled replication of myeloid stem cells, reciprocal translocation |
| Clonal Evolution | over time tumor cells acquire more mutations that allow them to be progressively more aggressive in proliferation |
| Vascularization | providing adequate blood supply is important for tissue to survive |
| PCR | Polyamerase chain reaction |
| Steps in PCR | 1. Heat to 95 C to denature DNA 2. Each strand in template for replication 3. Primers anneal to find target will be amplified, tag polymerase adds nucleotides to 3' end of prime |
| Limitations of PCR | easily contaminated, can't correct errors, must know something about sequence to clone a gene |
| Electrophoresis | -Separate DNA based on size -Fragments move from negative pole to positive pole in electrical current since DNA has a negative charge |
| STR | Short Tandem Repeats, important that loci used are polymorphic |
| CODIS | Combine DNA Index System- used for forensic identification |
| SNP | Single Nucleotide Polymorphism- specific site in genome where DNA base varies in at least 1% of the population |
| Microarray | SNP probes on chip -> Sample incubated with chip and binds where SNP's match -> Computer will say which SNP's are present |
| Association Studies | Correlate presence/ absence of specific SNP or SNP haplotype with pres/abs of genetic disorder |
| Ecogenetics and Personalized Medicine | Study of genetic variation that affects responses to env chemicals |
| Parathion | broken down into toxic: paraoxan |
| Suxamethonium | muscle relaxant, longer time to recover from anesthesia |
| Tamoxifen | use after breast cancer to reduce reoccurence |
| Warfarin | anti-coagulant, very dependent on individual |
| DTC Testing | Ancestry and 23 and Me (not a thorough genetic test) |
| Genetic Counseling Specialties | 1. prenatal 2. pediatric 3. cancer |
| Screening Vs. Diagnostic | estimate of risk vs definitive Dx |
| RNAi | interference, shuts off gene expression using double stranded RNAs |
| RNAi process | miRNAs and siRNAs bind with argonaut proteins to form a RNA induced silencing complex (RISC) that base pairs with mRNA and either inhibits translation or degrades mRNA |
| siRNA | -small interfering RNA -targets the gene it comes from |
| miRNA | -micro RNA -targets a gene other than what it comes from |
| Dicer | Enzyme that cuts double stranded RNA into specific length |
| Argonaut | Binds to siRNA or miRNA to form RISC |
| RISC | -RNA induced silencing complex -Complex that binds to the target mRNA sequence and either prevents translation or causes degradation of the mRNA |
| Uses for RNAi | medical treatment, new variety of corn |
| CRISPR | Clustered Regularly Interspaced Palindromic Repeats- Prokaryotic mechanism to cleave invading DNA in a double-stranded break |
| CRISPR Process | 1. short palindromic sequences, separated by spacers and found in clusters 2. Spacers are foreign DNA from invading viruses 3. Sequence cluster is transcribed, processed, and then binds to Cas9 4. Complex finds target matching by matching its sequence |
| GMO through engineering | -Does not require sexual reproduction, and can have the desired DNA inserted directly into the plant - No undesirable traits are passed on with the new genetic material |
| GMO through breeding | -Can only be done between two plants that can sexually reproduce -When plants reproduce, more traits than the desires one are passed on, often resulting in undesirable results |
| WHy are GMOs produced? | -Improved ability to grow in less favorable env -Improved ability to harvest or store the products -Improved nutritional value -Cost savings for the farmer, processing company, et |
| GMO examples | Bt Corn (insect resistance), Rainbow Papaya (virus resistance), Golden rice (improved nutrition) |
| Gene Drive | genetic element that is passed from parent to progeny at a higher frequency than what is expected in normal Mendelian segregation |
| Genetic Pest Management | Goals: reduce economic loss due to pests such as insects that prey on crops and livestock, combat invasive species, decrease human disease by managing pest vectors Methods: genetically modify the crop to be resistant to the pest |
| Euthenic | provide opportunities and experiences to improve quality of life without regard to genotype |
| Euphenic | altering phenotypes of individuals to improve their quality of life |
| Eugenic | altering the gene pool to increase the frequency of good genes and decrease the frequency of bad genes |
| Negative Eugenic Approaches | Restrict reproduction of those considered "inforior" |
| Positive Eugenic Approaches | Encourage those considered "acceptable" or "superior" to reproduce |
Created by:
ekmidkiff
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