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Human Genetics 355
test1
| Term | Definition |
|---|---|
| Selective reproduction | historically, the egyptians were the first through keeping the blood line "pure" 3kybc |
| Lamarck | theory of acquired traits - individuals could change charateristics and pass them on by will |
| Darwin and Wallace | theory of differential survival / reproductions - survival of the fitest succesful = reproduction |
| Mendel | idea that parents give factors to offspring |
| Galton | eugenics movement and heredistarianism - +eug = encourage people with traits you want to passed on -eug = discourage people with undesireable traits |
| Hereditarrianism | you are who you are because of your genes only i.e. nature |
| Current Genetic Technology | 1. Human Genome Projects and gene mapping for protien products 2. GMO 3. reproductive technology 4. Organ transplants and stem cells, match human leukocyte antigens - chromo 6, reason for National registry |
| Bioethical questions | 5 interrogatories: who, what, where, when , and why; integration of science, law, society, and public opinion. |
| Unique problems in human genetic studies | 1. long gestation time 2. small family size (1.9) 3. incomplete backgrounds 4. Non-random mate selection |
| Genetic Inferences from animal research | 1. field studies 2. transgenic alterations - foriegn gene in zygote |
| Correlational studies | monozygotic and dizygotic studies |
| Concordance | both twins have the trait |
| Disconcodance | only one twin has the trait |
| Single gene transmision | one gene's product causes specific observeable product i.e. HD, x-linked MAOAs |
| Multifactoral Traits | More than 1 gene & environment inolved: 1. Skin color 4-6 genes affect melanin 2. mood and mental disorders: schizophrenia, uni, bipolar, Alzheimer Disease 4. Social activities: alcoholism, sexual orrientation, other addictive behaviors. |
| Prokaryotic cells | no nucleus, has snarled DNA in nucloid, plasmids - ringed DNA, no membrane bound organelles, has ribosomes, plasma emebrane - bilipid permeable via (integrated, peripheral) protien channels, Extracellular structures (cell wall - exterior support, capsule |
| Eukaryotic Cells | has a nucleus surrounded by semi-permeable layer: nucleolus produces rRNA, nucleoplasm - watery matrix within the membrane, thicker than cytoplasm, Golgi Apparatus, Lysosomes, Mitochondria, peroxisomes, vesicles, vacuoles |
| Chromatin | complex of DNA and protiens, during replication and transcription |
| Chromosomes | condensed form of chromatin: DNA wraps arround 8 histones forming nucleosomes, non-histone protiens give support, during nuclear division |
| centromere | point of constriction: metacentric - in the middle, submetacentric - off center, acrocentric - almost at the end, telecentric - on the end not in humans |
| P and Q arms | P= short on top Q=long on the bottom |
| Somtic cell | any cell other than egg or sperm, 2n |
| Gametic cell | egg or sperm haploid |
| Aneuploid cell | does not have true number of sets of cs i.e. Trisomy 21 |
| Homolgous CS Pairs | autosomes(most genes on the autosomes) 1-22 (44cs), sex cs if female (Can't live without X cs) |
| Locus | genes location i.e. 15q24.2 |
| Karyotyping | Method to organizing cs, bandig or FISH(flourescent in situ hybridization patterns) all karyotypes should looke the same |
| Endoplasmic Reticulum | double membrane, rough ER - assmebles amino acid chains has ribsomes, Smooth ER - produces phospholipids and steroids, detoxifies poisons and drugs regulates calcium, interior - helps process manufactured prelim products - not functional |
| Golgi Apparatus | sorts modifies pakages enters cis leaes trans |
| Lysosomes | concentrates enzymes, prevents cellular self digestion, can attach onto dead organelles and eat them, can be exocytoted, enzyes erros can cause tay-sachs, Gaucher, and pompe's disease |
| Mitochondria | cellular respiration, has unique mtDNA which is inherited from the mother endosymbionic hypothesis, errors cause mt MD citric acid cycle problems, aging maybe parkinson - cells no longer put out adequate dopamine because of brain necrosis |
| Peroxisomes | bud off ER, meabolize hydrogen peroxide, if contain air cause tissure death, break down purines to recycle, errors can cause zellweger and X-linked adrenoleukodystrophy |
| Vesicles | contain enzymes or hormones, endo, exocytosis |
| Cytoskeleton | microtubels, microfilament, and intermediate - for movement support and anchorage - amebic motion, cilia and flagellum |
| Microtubules | hollow, flexible, centriols and spindle fibers required for cs movement, 9-2 arrangment same as sperm tail. |
| Microfilament | solid |
| Intermediate | stregnth, braided |
| Collagen deffects in the Extracellular Matrix | Osteogenesis imperfecta or ehlers - danlos - joints tend to be too loose - strechy skin bone curvature no bone support |
| Alzheimer | one cause of is an extracellular product from abnormal protiein which forms plaque - neurofiber tangles |
| Genetic's Influence | 1. Mariage and pregnancy, 2. Employment and insurance, 3. migration, 4. behavior, 6.confidentiality |
| Gametic testing | sperm can be centrifuged, females sink to the bottom, x-chromosome heavier, sperm can be washed and concetrated, polar body testing, doesn't destroy egg what ever is in polar body oppposite in egg; reasons for use to remove possible dominant traits |
| Preimplantation testing | IVF, @ morula stage(embryo day 2) pull off one cell(blastomere) and run genetic tests; reasons for use test for GD and tissue matches |
| Prenatal testing | to determine the age of the baby(femur length), previous prenatal problems, diet insufficiency (folic acid neuraltube defects, spina bifida aneucephaly), environmental exposure (x-rays, chemicals, microorganisms, german measles, flu) maternal age(errors) |
| Ultrasound | (Prenatal testing) placenta development |
| amnicentesis | (Prenatal testing) Fluid analysis and sampls cells from amnion by needle thorugh stomach, culture cells = chromosomes, 98% safe can prick placenta = abortion, might sample mom, can't be done until 15-16 weeks |
| Chorionic Villa Sampling | (Prenatal testing) chorionic cell smapling by catheter through the vagina or abdomin wall, 95% safe placenta can be disturbed, introduce infection, can be done @ 8weeks and results in a couple days |
| Fetoscopy | (Prenatal testing) tiny camera inserted thourgh abdomin wall, chance of infections or abortion |
| New born testing | in MI tested for a dozen conitions , can be remdiated by law, voluntary home tests |
| Carrier Testing | Generally somone in a defined population(i.e. asakanzi jews) |
| DNA profiles | uses mini satelites or short tandem repeats - where DNA varies from the norm, can be seperated into differant lenghts used by legal systems and social scientists(match remains with people) |
| Current Technology and concerns | genetic screening, wrongful death/birth, artificial parenting/embryo tech., pre-planed biriths(making kids for tissue)/deaths(inmates remain on death row until organs are needed, org. don, drugs and hormones, forensic tech, new species |
| Meischer | 1869 - described nuclein in the nucleus |
| Kossell | 1870 - isolated basic proteins from nuclein called theis protiens histones |
| Avery | 1940-50s - 1. Genetic Material is DNA, and not protien, 2. Dna directs protein synthesis (central dogma) |
| Chargaff | late 1940s-50 - quantative analysis, A + G = T+ C |
| Franklin, working for Wilkins | early 1950s - did x-ray diffraction analysis of DNA, determined its right handed |
| Watson and Crick | 1953 - 1. DNA within nuclear membrane, 2. DNA is a double righthanded helical molecule, 3. nucleotide structer = nitrogen bas, 5-carbon sugar 3' end, phosphate group 5' end, weak H-bonds hold 2 strands together, 5. 2 strands anti-parrallel |
| DNA's Semic conservative Replication | 1. initiation site requires RNA primase, H-bonds are broken by DNA Helicase, DNA's strands open bases exposed, nucleoplasm contains free-floating nucleotides pair with old requiring DNA polymerase(5'-3'), Lead made continues , one segs (ligase seals) |
| The Cell Cycle | Process regulated by proteins which control specific checkpoints |
| Cyclins | (protien) produced at a steady rate, at a specific concentration MPF are activated |
| Maturation promoting factors | Starts mitosis,1. helps dissolve the nuclear membrane,2. help to condense CS, 3. begins Spindle fiber formation, 4. degrades cyclin, therfore shuts itself off, cyclin starts cycle over again |
| Interphase | 3 stages - prepares for nuclear divsion, Gap one, synthesis and gap 2 |
| Gap 1 | 1. organelles and proteins are made (ribo, golgi, and ER workovertime) 2. pairs of centrioles are replicated, 3. cell size increases (takes on water) gap one checkpoint, without signal, cell goes into gap zero, a non dividing state (i.e.liver musc brain ) |
| Synthesis | DNA replication |
| Gap 2 | 1. Additional cell products formed, 2. gap two checkpoints regulate passage into mitosis, If not all organelles and proteins formed -> nondividing state |
| Mitosis | Division of a cell's genetic material (for growth and repair), 4 stages, Prophase, metaphase, anaphase, telophase |
| Prophase | replicated chromatin form chromosomes and split everywhere except the centromere |
| Metaphase | centriols north and south send out spindle fibers attach to centromere of CS pulling the to the equator |
| Anaphase | M checkpoint controls progress of chromatid seperation centromer is chemically brokenm now two individual unreplicated chromosomes, #centromers = # of CS humans 92cs in this phase |
| telophase | genetic materials are at the poles, Genetic material unwinds, nuclear envelope forms(reverse prophase in nuclear area) nucleolus forms spindle fibers dissolve |
| Cytokinesis | Cleavage furrow forms when actin and myosin form contractive ring around equator, can start at anaphase is happening durring telophase overlaps mitosis, cytoplasm divides |
| Normal somatic cells vs. Cancer Cells | somatic cells Differentriate into 3 pathways(meso,endo,ectoderms can't revert), cancer is nonspecialized=worthless, cancer does not divide more quickly, Cancer is not contact inhibited(keep growing even if barriered) no limit growth U, no hayflick |
| Hayflcik limit | Virgin cell will divide 50x before you don't anymore, every time a cell goes through mitosis a telomere is removed, no telomere(protective cap), no mitosis, cancer has enzyme called telomerase, rebuilds telomeres after each division, stem cells do too |
| Cellular adhesion vs. metastasizing cells | cancer cells break off and form satelite tumors |
| Progeria | 10 children in U.S. - not well researched, rapid ageing - 10x faster, death in teen years - oldest 15, all tend to look alike, beak nose, gaunt face, Hayflick limit 50x max life 130yrs most die at 13(13 x 10=130) Cyclin cycle to quick |
| Werner syndrome | rapid ageing starts at puberty, death around 50 naybe tripped by hormones |
| Dwarfism(achondroplasia) | long bone growth mutation of fibroblast growth facter receptors, normal size head and trunk |
| Meiosis | the formation of gamets, forms haploid cells, process preceded by interphase same as mitosis has two steps Meiosis I(4stages) Meosis II(4stages) |
| Prophase I | synapsis(pairing) between homologous CS forms tetrads(4 chromotids) pairs interweave genetic material, exchange gentetic material, point of contact is a chiasma |
| Metaphase I | pairs of CS pushed to the center, Mendals law of independant assortment(genetic variability) states that the chromsome pairs lign up on the equator independant of one another, |
| Anaphase I | Like genes seperate movein towards opposite poles(mendel's law of segregation) |
| Telophase I | genetic material at the poles when GM is furthest, end Meiosis I |
| Cytokinesis (I) | cytoplasm divides, 2 cells now have 23cs repilcated(2CT) |
| Interkinesis | the time between Meiosis I & II |
| Prophase II | replicated CS hang out |
| Metaphase II | spindle fibers attach to CS |
| Anaphase II | spindle pull CT apart into CS toward poles(46CS again unreplicated) |
| TelophaseII | centrioles pull the GM all the way to poles, end Meiosis II |
| Cytokinesis (II) | create 2 haploid daughter cells (a potential gamete) |
| Spermatogonium in testes | undergoes mitosis-> 1degree spermatocyte |
| 1 degree Spermatocyte | undergoes Meiosis I forming two 2 degree spermatocyte(23CS) replicated |
| 2 degree spermatocyte | undergoes Meiosis II, pulling apart chromotids forming 2 23cs unreplicated to form spermatids, spermatids then mature to sperm(morhphological change) process takes approximately 2.5 months(starts at puberty |
| Male gamete formation | 1 spermataognium goes through mitosis forming two 1 degree spermatocytes, they then go through meiosis I forming two 23 CS replicated 2 degree spermatocytes a peice (4total) they then go through meiosis II forming two 23cs unreplicated CS spermatids (8) |
| oogonium in ovary | undergoes mitosis prior to birth forming 2 primary oocytes |
| Primary oocytes | are stuck in prophase I until puberty, the nundergo meiosis I forms one secondary oocyte (which contains the majority of the cytoplasm, protien and organs) and a polar body(with the same amount of DNA) which are ovulated |
| Seondary oocytes | undergoes Meiosis II only upon fertilization(sperm stops other through electrochemical change forimg ootid and polar body, fertilized egg forms zygote when 2 nuclei fuse(process take 10-50 years of may never be competed) |
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bmg4
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