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GENETICS #whoareyou? WHAT DOES A GENETICIST DO? - 2 types: Laboratory Geneticist Genetics Counselor Major fields for Geneticists include: Medicine, Aquaculture, Crime & Pharmaceutical Companies Uncover Origins of disease, birth defects & search for Preventatives EDUCATION Education Requirements: Bachelors in Biology or Chemistry Few positions with only a Bachelors Masters in Genetics helps but Ph.D or MD is required for REAL advancements (money) power in research Facilities WHERE CAN A GENETICIST WORK? - - Universities: lectures, Researchers, Technicians Hospitals: Genetic Clinicians Researchers, Technicians, Counselors & Nurses A gricultural, Pharmaceutical & Biotech Industries: Researchers, technicians, management, writers, marketing & Sales, Public Relations Government: Administrators, Managers, Of ficers —make policy regarding Science, regulation, legislation WHAT IS A MEDICAL FAMILY TREE? Preventive medicine as Physician can help identify risks after ID of health problems Medical Family Tree Includes: - Recorded data about immediate family Conditions that follow definite genetic pattern Awareness to avert advanced disease/disability Age of individual when disease 1 st occurred Occupations that may expose workers to factors that affect health - History of GOOD health (important?) MEDICAL FAMILY TREE - Chromosomal Abnormality Testing: Birth records Apgar score Rates of newborn respiration Muscle tone Reflexes Heart rate Color on scale of 0-10 Chronic Villus Sampling MEDICAL FAMILY TREE Incomplete pregnancies Record of immunizations of each family member Medical exams & tests done Individual problems, medications, allergies Physical characteristic of family members Records of family illness, accidents, surgical procedures - Common childhood illness/diseases MEDICAL HISTORY FAMILY TREE: SAMPLE WHAT IS A CELL? How does a Cell pertain to Genetics? Cell: the basic building blocks of all living things Each part has a dif ferent function Organelles: perform special tasks within a cell Major Parts of Human Cells: Cytoplasm: fluid inside cell—surrounds organelles Endoplasmic Reticulum (ER): smooth & rough: organelle helps process & transplant molecules into/out of cell ⁻ Golgi Apparatus: packages molecules processed by ER to be transported ⁻ Lysosomes: organelles—recycling waste center of cell. Digest foreign substances/worn-out cell components ⁻ ⁻ CELLS & GENETICS Mitochondria: ⁻ Organelles that act as energy power stations to convert energy from food to form cells can use: has mitochondrial DNA: can copy self. Maternally inherited. Nucleus: ⁻ Cells Command Center; tell cell when to grow, mature, divide, die. Houses DNA Surrounded by membrane Cell/Plasma Membrane: ⁻ Outer lining of a cell; separates cell from environment; how substances enter and leave cells Ribosomes: ⁻ organelles act as productions line to process cell’s genetic instructions to create protein CLASSES OF PROTEINS - - Amino Acids: Building blocks of all proteins Enzymes: Proteins that are catalysts to increase the rate of chemical reactions Structural Proteins: Provide shape & support to organelles Regulatory Proteins: Control cellular functions PROTEINS—WHAT THEY DO Provide structure & support for cells Insure that food reaches cells Insure nervous impulse transmission Protect from invaders Enable chemical reactions to occur in body Enzymes—proteins that act as catalysts GENE EXPRESSION What is a Nucleic Acid? - DNA & RNA are major nucleic acids. They store, transmit, and express genetic information - Tongue Roll? - Eye Color? - Ear Lobes? - Dimples? - Hand Clasping? Right over Left? Left over Right? DNA Discovered in 1952 by Watson, Crick, Wilkins & Franklin; but Nobel Prize only was given to Watson & Crick DNA is located in the nucleus & must be replicated before a cell can divide Since DNA cannot leave the nucleus, it must be transcripted into RNA CENTRAL DOGMA The Central Dogma: DNA encodes the information to make RNA….and RNA molecules function together to make protein How do DNA and RNA dif fer? - Sugar in DNA is Dexyribose in RNA it is Ribose - The nitrogenous base uracil is used in RNA in place of thymine (in DNA) INTERACTIVE VIDEOS http://www.youtube.com/watch?v= -CoY7-riEUI http://www.youtube.com/watch?v=ezSEAh3qHgw DNA UNWINDING & TRANSCRIPTION DNA is transcribed or re -written into RNA in a very complicated process called transcription The double helix is unwound and each strand acts as a template. Bases are matched into synthesize and new partners strands. DNA begin to starting point for DNA replication while Helicase is the enzyme that unwinds the DNA helix Rungs of the DNA ladder must split down the middle and pull apart by binding RNA polymerase, an enzyme that makes RNA from DNA . The 1 st step in protein production is Transcription; which takes place in the nucleus; DNA is the blueprint for RNA STEPS OF TRANSLATION Initiation mRNA enters the cytoplasm and becomes associated with ribosomes (RNA + proteins) tRNAs, each carrying a specific amino acid, pair up with the mRNA codons inside the ribosomes. Base pairing between mRNA codoms and tRNA anticodons determines the order of amino acids in the protein Elongation: addition of amino acids one -by -one - As the ribosome moves along the mRNA and the tRNA transfers its amino acid the growing protein chain, producing the protein - Termination: when the ribosomes hits a stop codon; the ribosomes falls apart - The same mRNA may be used hundreds of times during translation by many ribosomes before it degraded (broken -down) by the cell STEPS IN TRANSLATION RNA & PROTEIN The order of the bases in the DNA specifies the order of bases in mRNA The order of bases in the mRNA specifies the order of amino acids in protein Both DNA & RNA are assembled from nucleosides triphosphates or nucleotides (TP=triphosphate) For DNA they are: dATP,dCTP, dGTP, & dTTP For RNA they are: ATP, CTP,GTP, & UTP STRANDS & DIRECTIONS OF SYNTHESIS DNA normally has two strands; the sense strand and the antisense strand The double-stranded DNA , only one strand codes for the RNA that is translated into protein. This DNA strand is referred to as the antisense strand. The sense strand that does not code for RNA is called the sense strand. Antisense DNA; strand of DNA that carries the information necessary to make proteins by binding to the corresponding messenger RNA . Although these are MIRROR IMAGES, only the antisense strand contains the information for making proteins Antisense strand is known as noncoding DNA FORMS OF GENE THERAPY/GENETIC ENGINEERING Scientists use Restriction enzymes to clip a DNA chain at a specific point and insert another piece of DNA chain from another cell; then rejoin with another enzyme w/new characteristics This is called Recombinant DNA or Gene Splicing. And the process of Polymerase Chain Reaction is how it occurs. PCR allows researchers to crate millions of copies of a specific DNA sequence in two hours Gene Splicing: - Aka antisense technology where by a gene that may cause disease can be inactivated. - Used to treat viruses including AIDS, Herpes, Hepatitis & Chicken Pox's Genetic Engineering: - Replacing gene components in order to encourage replication of desired traits - Used in animals and plants - Used to increase productivity, control weeks and insects, and preserve diversity within the ecosystem POLYMERASE CHAIN REACTIONS (PCR) To amplify a segment of DNA using PCR, the sample is: - Heated so the DNA denatures (separates) into two pieces of singe-stranded DNA - Then an enzyme called “Taq Polymerase” builds two new strands of DNA; using the original strands as templates. - This process results in the duplication of the original DNA , with each of the new molecules containing one old and one new strand of DNA . - These strands can be sued to create two new copies, and so on USES? Diagnoses Genetic Disease Carry out DNA fingerprinting: - used in paternity - maternity cases - criminal ID , personal ID - diagnosing Inherited disorders - classifying immigrants Detect bacteria or viruses Research human evolution Clone DNA of Egyptian mummy Etc…. WHAT IS THE HUMAN GENOME PROJECT? 13 year project between US Dept. of Energy & Natural Institute of Health GOALS: - Identify the 25,ooo genesis human DNA - Determine sequences of the 3 billion chemical base pairs making up human DNA - Store information in databases - Improve tools for data analysis - Transfer related technologies to the private sector - Address ethical, legal & social issues that come up; cloning BIOTECHNOLOGY & “GENETICALLY MODIFIED” These names are interchangeable − Genetically modified: means altering living organisms − Biotechnology: living organisms such as enzymes to make better products; cheese, beer, etc. COMMERCIAL APPLICATION OF RECOMBINANT DNA Making Insulin Interferon: − Natural defense against viral infections and certain types of cancer Factor VII & IX—clotting factors needed by hemophiliacs Human Growth Hormone: − Used to treat dwarfism Flavor-Saver—keep fruits/veggies fresh longer Gene Therapy: − Fixing specific diseases by replacing one defective gene