Genetics

1. Genetics #whoareyou?

2. 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

3. 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

4. Where Can a Geneticist Work? • Universities: • lectures, Researchers, Technicians • Hospitals: • Genetic Clinicians Researchers, Technicians, Counselors & Nurses • Agricultural, Pharmaceutical & Biotech Industries: • Researchers, technicians, management, writers, marketing & Sales, Public Relations • Government: • Administrators, Managers, Officers—make policy regarding Science, regulation, legislation

5. 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 1st occurred • Occupations that may expose workers to factors that affect health • History of GOOD health (important?)

6. 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

7. 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

8. Medical History Family Tree: Sample

9. What is a Cell? • How does a Cell pertain to Genetics? • Cell: the basic building blocks of all living things • Each part has a different 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

10. 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

11. 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

12. 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

13. 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?

14. 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

15. 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 differ? • Sugar in DNA is Dexyribose in RNA it is Ribose • The nitrogenous base uracil is used in RNA in place of thymine (in DNA)

16. Interactive Videos • http://www.youtube.com/watch?v=-CoY7-riEUI http://www.youtube.com/watch?v=ezSEAh3qHgw

17. 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 1st step in protein production is Transcription; which takes place in the nucleus; DNA is the blueprint for RNA

18. 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

19. Steps in Translation

20. 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

21. 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

22. 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

23. 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

24. 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

25. 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….

26. 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

27. 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.

28. 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