* Your assessment is very important for improving the workof artificial intelligence, which forms the content of this project
Download File - Mr. Lambdin`s Biology
Comparative genomic hybridization wikipedia , lookup
Epigenetics of human development wikipedia , lookup
Metagenomics wikipedia , lookup
Bisulfite sequencing wikipedia , lookup
Zinc finger nuclease wikipedia , lookup
Polycomb Group Proteins and Cancer wikipedia , lookup
Gel electrophoresis of nucleic acids wikipedia , lookup
Mitochondrial DNA wikipedia , lookup
Primary transcript wikipedia , lookup
Genetically modified food wikipedia , lookup
Nutriepigenomics wikipedia , lookup
United Kingdom National DNA Database wikipedia , lookup
Genome evolution wikipedia , lookup
Nucleic acid analogue wikipedia , lookup
DNA vaccination wikipedia , lookup
Neocentromere wikipedia , lookup
X-inactivation wikipedia , lookup
Cancer epigenetics wikipedia , lookup
Genealogical DNA test wikipedia , lookup
Epigenomics wikipedia , lookup
Human genome wikipedia , lookup
DNA damage theory of aging wikipedia , lookup
Nucleic acid double helix wikipedia , lookup
Genomic library wikipedia , lookup
Frameshift mutation wikipedia , lookup
Oncogenomics wikipedia , lookup
No-SCAR (Scarless Cas9 Assisted Recombineering) Genome Editing wikipedia , lookup
Cre-Lox recombination wikipedia , lookup
Molecular cloning wikipedia , lookup
Microsatellite wikipedia , lookup
DNA supercoil wikipedia , lookup
Vectors in gene therapy wikipedia , lookup
Therapeutic gene modulation wikipedia , lookup
Site-specific recombinase technology wikipedia , lookup
Cell-free fetal DNA wikipedia , lookup
Extrachromosomal DNA wikipedia , lookup
Deoxyribozyme wikipedia , lookup
Genome (book) wikipedia , lookup
Non-coding DNA wikipedia , lookup
Genetic engineering wikipedia , lookup
Genome editing wikipedia , lookup
Helitron (biology) wikipedia , lookup
Designer baby wikipedia , lookup
Artificial gene synthesis wikipedia , lookup
Microevolution wikipedia , lookup
DNA Mutations and Genetic Diseases Ch 13, 14, 15 What is a Mutation? • Changes in the normal sequence of DNA • Many different types and sizes • One letter mistakes to whole chromosome mistakes MUTATIONS can be: HARMFUL defective proteins -Mutations that produce ______________ are usually harmful. -Harmful mutations are associated with many genetic disorders ________________ and can cause cancer MUTATIONS can be: BENEFICIAL Mutations are also a source ____________genetic variation of ______________ in the population Mutations can help an organism _________________ survive and reproduce Provide a way for species to change over time (evolution) REMEMBER! MUTATIONS _______________ are changes in the genetic material. Mutations can happen: mistakes in copying DNA • when cells make_________ • when cells are exposed to environmental carcinogens ___________ like radiation __________- X-rays, tanning booths __________ - cigarette smoke, pollutants chemicals viruses __________ - HPV Gene Mutations • A mutation is a change or alteration, either in form or qualities • Mutations involving 1 or more genes • Point Mutations = substitute one letter in for another (A,G,T,C), usually not a problem • Frameshift Mutations = insert or delete letters, throws off how the entire sequence is read = problem Chromosome Mutations • Changes in the number and structure of chromosomes • Chromosome Duplication: extra piece of chromosome or an entire extra chromosome • Chromosome Deletion: a piece of chromosome is lost or an entire chromosome is missing Karyotype-picture of a persons chromosomes Results of DNA Mutation Notes Failure to Make the Right Proteins Down Syndrome • Trisomy 21 = 3 number 21 chromosomes • Symptoms = distinct facial features, low communication skills, hearing and seeing problems, lower IQ • Occurs mostly when women have children after 40 Phenylketonuria (PKU) CAUSE: ENZYME Mutation in gene for an ___________ breaks down amino acid that __________ an ___________ called phenylalanine X X MENTAL RETARDATION Build up causes ________________________ http://biology.clc.uc.edu/courses/bio104/protein.htm Phenylketonuria (PKU) ALL babies are ________ tested ____ for PKU before they leave the hospital. http://labspace.open.ac.uk/file.php/2588/SK195_6_002i.jpg Treatment: LOW in phenylalanine Need a diet _____________________ to extend life and PREVENT ______________ mental retardation amino acid If phenylalanine is an _____________, what type of foods should PKU patients avoid? PROTEINS ! __________________ THINK ABOUT IT What does a can of Diet Coke have to do with human genetics? LOOK AT THE WARNING LABEL ! NUTRASWEET ______________ is made with phenylalanine Hemophilia • Blood doesn’t clot correctly • Risk of bleeding to death • A X chromosome deletion • 1 in 400 babies affected yearly • Treatments add clotting factors to blood so that it will clot correctly Albinism • Lack of melanin pigment • Cause: gene mutation on #11, #15, or #9 • Symptoms: little or not pigment in the skin, hair, and eyes; bad vision, sensitive skin • 1 in 17,000 people • Special glasses and protective clothing must be worn when outside Proteus Syndrome • Deletion on chromosome #11 • Symptoms: atypical bone growth, tumors on and beneath skin • Very rare • The elephant man? Achondroplasia • Gene affected on chromosome #4 • Symptoms = short arms and legs, normal sized head and spine, normal IQ • Possible for 2 dwarfs to have a normal sized child • 1 in 15,000 people have it Sickle Cell Anemia • Gene on chromosome #11 is affected • 1 in 635 babies, more common in African Americans • Sickle shaped blood cells result in painful arms and legs, breathing problems, dehydration, swelling Huntington’s Disease • Duplication on chromosome #8 • Uncontrollable muscle spasms, deterioration of the brain, death • Symptoms don’t show up until 30 –50 years old, so you pass it on to your kids without even knowing (50% chance) Turner Syndrome • Female who is missing an X chromosome • Symptoms: short, webbed neck, infertile, bone deformations • Hormone replacement therapy helps relieve symptoms Klinefelter’s Syndrome • Men that are XXY • 1 in 700 men have it • Symptoms: Normal males (some develop feminine traits) they are just infertile • Most men don’t know that they have it until they try to have children Cleft Lip and Palate • A large gap in the roof of the mouth and lip • Didn’t form correctly before birth • Side effect of other genetic diseases and of fetal alcohol syndrome (drinking while pregnant) • Surgery can return to normal, but expensive Cri du Chat Syndrome • Missing piece of chromosome #5 • Symptoms: slow growth rate, high pitched scream (cat like), low IQ, webbed fingers and toes • Very rare Progeria or(Hutchinson Gilford) • Caused by a “fresh” mutation or has occurred only by chance in the child and does not occur in either of the parents. • Only 10-12 people worldwide have it at one time • Age 10 times faster • Die of heart failure at 10-15 Manipulating DNA Chapter 14-3 Manipulating DNA • Scientists can cut and paste DNA to get specific sequences that they want • Very similar to cutting and splicing video tapes Tools of DNA Manipulation • Cutting DNA = Restriction Enzymes – Specific enzymes cut DNA at specific sequences – (ex) ecoR 1 cuts the DNA at every CTTAAG sequence Tools of DNA Manipulation • Separating DNA = gel electrophoresis – The cut up DNA is put on the jelly and a electrical current is passed through it – The DNA gets separated by size – The largest pieces don’t travel as far as the smaller pieces Tools of DNA Manipulation • Making Copies of the DNA = PCR – A Polymerase Chain Reaction machine makes copies of the sequences that you want • Reading the DNA = dyes and special microscopes - dyes make it possible to tell the difference between A, T, G, and C What can we do with these tools? 1. Forensics: see if DNA from the crime scene matches a criminal’s DNA 2. Putting specific genes into plant and animal cells 3. Putting human genes into bacteria to make multiple copies for synthetic use 4. Genetically modified foods Human Genome Project Our Findings Goals of HGP • Sequence Entire Human Genome • Identify Genes • Chart Variation • Sequence other organisms Successes • Completed Early (19902003) • Discovered – Only 20,000 Human Genes – vs. 100,000 Human genes(previous guess) • Mapped Genomes – – – – Chimpanzee Mouse Rat Fruit Fly Other Successes • Unraveled Cancer genetics – Individualize treatment • Changed Ideas of DNA – Epigenetics • SNP’s (Single Nucleotide Polymorphisms) – Different by 10 million letters – Only .1 % of total genes What’s Next? • Understand functions of genes • Catalogue Human Variation • How it all works together? In the course of human progress, it has been far easier to understand the things we make, rather than what makes us Genetic Engineering Chapter 14-3 Genetic Engineering • Humans changing the sequence of DNA • Get traits that we want • Selective breeding, cloning, DNA manipulation and transformation Selective Breeding • Humans controlling who gets to breed so that we can control the traits in the next generation • All domestic animals: dog breeds, milk and beef producing cows, etc… Hybridization • Cross two dissimilar organisms to get offspring with the best traits from both • Only breed the cows that produce the most milk • Cross a corn plant that produces a lot of corn to one that resistant to insects • Horse X Donkey = Sterile Mule • Zorse (zebra and horse) • Cama ( Camel and Llama) Inbreeding • Continued breeding of individuals with the desired characteristics • Maintains the traits that you want • Over inbreeding = joint deformities and blindness Modern Biotechnology some examples • • • • • • Recombinant DNA Stem cell therapy Cloning Designer drugs Genomics Gene Therapy What are the potential benefits? What are the potential dangers? What are the ethical issues? Recombinant DNA • Taking the DNA of one organism and attaching it to the DNA of another. • Uses Plasmids – Circular pieces of bacterial DNA – Must contain a replication start signal (ori) – Must contain a restriction enzyme cutting site • http://webapps.css.udel.edu/biotech/rDNA.html Genetically Modified Bacteria Cloning • Creating Genetically identical individuals • 1997 the sheep Dolly was cloned and she produced a viable offspring so it was a success • An egg is removed and a cell from the adult that you want to clone is fused with it. The egg cell is than placed into a foster mother where it develops normally Cloning in Agriculture Other Cloned Animals • Five cloned pitbull puppies are seen with their 'mom' at the Seoul National University Hospital for Animals in South Korea. Prometea and Pegaso (Cloned horse and offspring from cloned horse.) Transgenic Organisms • organisms that have genes from other organisms inserted into their DNA • Bacteria = human insulin producers • Animals = lab rats with human immune systems, bovine growth hormone • Plants = plants that have genes that make them resistant to insects, herbicides, and drought GMO’s • Genetically Modified Organisms • Almost all of the fruits in vegetables sold in the USA have been genetically modified • (92% soy beans, 80% corn etc..) • Should they be labeled???? GMO Benefits • Decreased Pesticide Usage – Bt toxin gene • Decreased Spoilage • Prevent Disease – Golden rice (vitamin A) • Source of Human Medicine – Human proteins from milk – Insulin – Blood clotting factors GMO Cons • Cause extinction of beneficial insects – Bt toxin • No safety testing of GMO food – Allergies – Long term • Non-scientific purposes – Cloning Humans/Pets – Designer babies – Glo-Fish