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Watson and Crick (nobel prize) discovered structure of DNARosalind Franklin drafted the information and worked with the men but died (dead ppl cant get nobel prize) do x ray structure analysis to see the helix4 discoveries needed to solve DNA structure: 1. Phosphate backbone is on outside 2. Bases on inside 3. Molecule = double helix 4. Strand antiparallel with specific base pairingwilkins: head of the group so he got nobel prize too (3 ppl max)Smoking:-molecules change when you smoke. Cytidine deaminationcytosine changes to uracil, end result: DNA is changed permanently from ACG  ATG (diff proteins coded for)-AMES test for mutagenstake bacteria, see if chemical causes mutations in bacteria, developed by professor AMES,expose bacteria to a test compoundcigarette smoke tar and hair dye (mutagenic compounds!)fail ames test? Cause mutation and is dangerousdigestion can mutate chemicalsHuman Genetics:-35 million differences b/w humans and chimps (98 % similar)although only 2% is different, that is a HUGE AMOUNT-small dna difference accounts for how we speak and our ability to speak-everyone is always mutating and genetically different1 mistake for 1 million replicated base pairsdna in each new cell should have 3000 mutations BUT all cells have mutation recognition and repair systems, BUT not all are noticed so they aren’t all fixedSNP “snip” = single nucleotide polymorphism (alternative to genome sequencing)Usually differences correlate with some issue (disease/health) BUT ARE NOT THE CAUSEFDA demands this info to be stopped because people don’t understand it and seek unneeded medical careYou can have a a mixture of snps because of dna from both mom and dadIsolate DNA (look for a difference based on dye and the colors),-what do you do if you are positive for copies of early onset breast cancer mutations? (you carry gene tied to cancer….what do you do? Do you tell your kids?)Angelina jolie did that (got boobs removed because she had a high risk)  PREVIVORSSomatic Cells:-skin (all but reproductive)-mutations do happen, but genetic info found in cells build/repares/replaces cells-mutation: during development or repair but AFTER fertilization-mutations in skin cells gives people different colored skin OR if your pre-iris cells are damaged you will have different colors in your eyes-CELLS CAN RESULT IN CANCERS:cells grow, contact each other, stop growing = contact inhibitiongenes make proteins that stop more cell division, but if you need cell division (get cut and need skin to heal)if you lose the ability for cells to stop growing (lose repression), then you get a tumor (breast tissue very susceptible to this because its need to grow/stop growing)breast cancer easily inherited because receive those mutations and the lack of control to repress/notHuman hereditary diseases-can’t catch it, its because of a genetic difference-Chromosome translocations: part of chromosomes move-chromosome nondisjunctions: during sperm/egg developmentthey should’ve come apart and didn’t; can occur with any autosome or a sex chromosomenon-disj. w/ xx pair --? Egg with two x chromosomes and egg without an x chromosome (no sex chromosome!) - trisomy x or x 0 (turner syndrome) or xxy (klinefelter syndrome)Jacob Syndrome: two y chromsomes-non disjunct. Causes xyy so get tall guys with speech and learning issues-tall, thin, acne, immaturity, etc.Why are there more men in prison with XYY?Ugly, not a part of the group, genetic predisposition to criminal behaviorDNA Sequenced?-most people said yesGenomic DNA, Mitochondrial DNA, SNP: ?? on the test so know it!!Autosome Non-disjunction: trisomy (3 copies of one chromosome)-trisomy 13: patau syndrome: small head/eyes, cleft lip-trisomy 18: Edward syndrome : heart and development issues-trisomy 21: down syndrome, older women have increased risk of having down syndrome children, mental retardation / heart defects occursee differences in the eyes, hands, and earsSingle Gene Mutation (Traits)-2 copies of EVERY gene in every somatic cell (one / parent except for genes on x and y chromosomes in males)-if BOTH are identical  Homozygous for that gene-if genes are NOT same then  heterozygous for that genealleles: different versions of the same geneex: gene is eye color, allele is brown/bluedominant allele: trait in homozy / heterozy individualsrecessive allele: expressed only in homozy. Individualon the X or Y chromosome it’s expressed in MALES because only have 1 copy of x and yAutosome: all but x and y chromosomes-single gene linked traits: widows peak *peak = dominant-earlobes: unattached = dominant-others: bent pinky (dominant), mid-digit hair (hair on middle finger) = dominant, tongue rolling, hitchhikers thumb, dimples, freckles, etc.Sex chromosome-linked single gene traits:-ex: red/green color vision-X chromosome = gene responsible for color vision-mutations that cause loss of color vision – recessive-Females have TWO x chromosomes so its really rare to be color blind, but males only have ONE x chromosome so they have higher chances - more frequent in malesHuman Genetic Traits/Hereditary Diseases:-Tay – Sachs: nervous system failure – autosomal recessive-Cystic Fibrosis: chloride channels fail  mucus in lungs – autosom. recessive-Sickle-cell disease: anemic disease - autosomal incomplete dominant-Achondroplasia: dwarfism – autosomal dominant-Huntingtons: mental deterioration – autosomal dominantHuman Pedigrees:-Genetic counseling graduate program @ osu  first class next fall-construct pedigrees to show if traits are dominant/recessive and how likely it is in the familyconsanguineous relationship: marry your own blood (see arrow above)married cousins are more likely to have recessive trait  more disordersQueen Victoria: ON TEST PAY ATTENTION-Mutation in gene responsible for blood clotting (hemophila), on the x chromosome, then can prevent clotting from those who have the gene on one or both chromosomes - profuse bleedingon the x chromosome, which gets passed onvery rare-lots of royalty marriage each other, but all of her great grandkids died before they could even have kids again (all of the were males with hemophilia)-die very young, almost ALL died because of hemophilia blood clotting-shows recessive gene (x chrom, only when two x chrom. That’re both recessive)*NOT present in current british royal familyhemophila: defect in blood clotting, recessive trait carried on x chromosome so when present males are


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OSU BIOLOGY 1102 - Lecture notes

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