Unit 3.4 Studying Human Genetics and Biotechnology

Page 67Unit 3.4 Studying Human Genetics and BiotechnologyFlashcard Warm-up Nov. 2nd #42PedigreeA chart of an individual's ancestors used in human genetics to analyze inheritance of certain traitsIndividuals expressing the trait are shaded in blackSquares represent malesCircles represent femalesLines connecting males and females represent marriageA vertical line from a marriage means these are their kids

Genetic disease reviewAutosomal, sex-linked, or chromosome anueploidy?Cystic fibrosisColor-blindnessPKUHuntingtons diseaseDowns syndromeHemophiliaSickle Cell anemiaKlinefelters A. Problems Studying Human Genetics1. Ethically irresponsible to conduct testcrosses on humans.Testcross: method to determine the genotype for a dominant phenotype (AA or Aa?), always use homozygous recessive to compare unknown to.2. Humans have long life spans and it requires decades to produce several generations to study.Small number of offspring (and long gestational periods)

Techniques Used to Study Human Genetics1. Population Sampling- determine how often a trait appears in a small randomly selected group, then apply to the entire population.

2. Pedigrees: graphical record of the inheritance of a single trait over several generations. Determined based on family/historical documents, interviews, photographs, and medical records.

C. PedigreesShapes represent individuals in pedigrees, connecting lines represent relationships.Helpful Hints for figuring out pedigreesIf the pedigree is showing a SEX-LINKED trait:No male carriersTrait cannot be passed from father to sonMore males will express the trait

If the pedigree is showing an AUTOSOMAL recessive trait Trait can skip a generationTrait CAN be passed from father to son

D. Human Genome ProjectThe Human Genome Project: is a collaborative effort among scientists worldwide to map the genes of humans. Allowing them to detect gene variations on the chromosomes which may indicate a disorder.Hopes are to develop gene therapy or genetically based medicines.

Ticket Out the doorMatch the genetic disease with the description

1. Cystic fibrosis2. Hemophilia3. Klinefelters Syndrome4. Downs syndrome5. Turners syndrome6. PKUinability to break down an amino acid called phenylalanineSex-linked recessive trait, blood does not clot properlySex chromosome anueploidy, XXY, male with female sex characteristicsTrisomy 21, mental retardation, flattened facial features, heart problemsSex chromosome anueploidy, X, female but sterileAutosomal recessive, build up of mucus in the lungs and digestive system.

Warm-up Nov. 5th #43Draw the pedigree, then determine if it is:Sex-linked or Autosomal Pedigree? Dominant or recessive?EXPALAIN HOW you knew

Autosomal dominant11Sex-linked or Autosomal Pedigree?Dominant or recessive?Explain HOW you know

Sex-linked recessive12Genes, Genetics and DNA Video1. What do you sometimes call the special images showingan organisms sequence of DNA bases?2. How many genes do humans have?3. What do you call it when scientists change the genes thatline a DNA molecule?4. What is the process called where abnormal genes arereplaced with healthy ones?1. What do you sometimes call the special images showingan organisms sequence of DNA bases?A DNA fingerprint2. How many genes do humans have?More than 30,0003. What do you call it when scientists change the genes thatline a DNA molecule?Genetic engineering4. What is the process called where abnormal genes arereplaced with healthy ones?Gene therapyE. Detection of Genetic DisordersGenetic Counseling: can help parents determine the chances of passing a harmful genetic trait to their childSonograms: use of sound waves to produce a picture of a fetusUsed to evaluate babys growth and developmentBlood tests: used to screen for proteins Alpha-Feto protein test (AFP)- Levels determine if baby is at risk for Downs syndrome, Turners , or spina bifida.

Amniocentesis: Removes amniotic fluid with fetal cells which can be cultured and produce a karyotype. Karyotype: a picture of the chromosomesCan identify Downs, Klinefelters, and Turners. Chorionic Villi Sampling: removes tissue from the placenta for karyotyping.This can be done earlier in pregnancy and is more risky.

Karyotypes

F. Prevention/TreatmentGenetic diseases cannot be cured but treated:Pain medication: to relieve symptoms.Occupational Therapy: help people who have conditions improve their ability to perform everyday tasks Blood Transfusions: Sickle-cell/ Hemophiliacs may require this.Gene Therapy: use vectors (viruses) to replace defective genes with normal onesEx. Treating cystic fibrosis and hemophilia

http://www.edu365.cat/aulanet/comsoc/Lab_bio/simulacions/GeneTherapy/GeneTherapy.htm

1. A DNA fingerprint2. More than 30,0003. Genetic engineering4. Gene therapy

Warm-up Nov. 7th #44Gene TherapyReplacing bad disease genes with good genes to help people with diseases like cystic fibrosisViruses are used as vectors (vehicles to carry the good genes) into the person with diseased genesGene therapy is like ..

Helpful Tips for DNA extraction!Make sure to chew on your gums a little while swishing your gatorade for 1 minuteWhen ready to fill your small vial with gatorade that you spit out, ONLY FILL YOUR vial to 6 ml line.When adding the meat tenderizer (enzymes) add a PINCH, as if you were cooking (this is in the white bowl)Each time it tells you to let it sit for 10 mins. 5 will be okWhen ready to add isopropyl alcohol to your tube add it at an angle and add slowly (it will separate out at the top)

Warm-up #45 Nov. 8th Watch the video about the TRUE story of Ronald Cotton and Jennifer Thompson.http://www.youtube.com/watch?v=u-SBTRLoPuoWHAT evidence do we often use NOW to aid in the conviction of a criminal?EXPLAIN the unique situation of Ronald Cotton. WHY was he convicted?What happened to free Ronald Cotton?Can you think of another case where DNA evidence DID NOT convict a criminal, even though the evidence was there?DNA FingerprintDNA fingerprint- A unique band pattern made of DNA fragments. Unique to every individual, unless you have an identical twin

Uses for DNAViolent Crimes determines source of DNA left at a crime scene.

Uses of DNAPaternity - used to determine the father of a child

Gel Electrophoresis- tool used to create a DNA fingerprint, it separates pieces of DNA based on size (# of base pairs).

Steps in DNA Fingerprinting

Step 1: Restriction enzyme cleaves the DNA sample at a specific sequence.Restriction enzyme: the enzymes that cuts the DNA between the nitrogen basesCleave: to Cut (between nitrogen bases)

Step 2: DNA fragments are loaded into wells on a gel.Step 3: Bands are created as electricity forces DNA fragments through the gel. Small pieces move further than larger pieces.Step 4: Compare to other DNA samples.

Running a gelStain DNAethidium bromide binds to DNAfluoresces under UV light12cut DNA with restriction enzymesfragments of DNAseparate out based on size3

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Ticket out the Door1. Why are restriction enzymes important when making a DNA fingerprint?

2. What do the bands represent on a DNA fingerprint?

3. Using the fingerprint to the right who is a possible suspect for murder?

Warm-up Nov. 8th #45Recombinant DNA OR Genetic EngineeringTechnology that combines DNA from two different organisms. One practical application of this process is making human insulin for people with Diabetes.

Genetically Modified Foods (GMOs)These foods, through genetic engineering, have been altered in such a way to benefit humans by improving the efficiency or nutrition of plants and animals

Can we mix genes from one creature to another?

YES!35We have been manipulating DNA for generations!Artificial breedingcreating new breeds of animals & new crop plants to improve our food

36Breeding food plantsEvolution of modern corn (right) from ancestral teosinte (left).

37H. Genetic EngineeringGenetic Engineering: Modifying DNA or creating recombinant DNA.Transgenic Organism: an organism which contains foreign DNA from another species.Recombinant DNA: form of artificial DNA that is created by combining two different sources of DNA.

A gene isolated from a species of jellyfish which causes fluorescence was introduced into marmoset embryos that allows them to build green fluorescent protein (GFP) in their tissues. Which glows green when exposed to blue light. DNA is like a RECIPE BOX!DNA is found in EVERY living organism.

Grow bacteriamake more

growbacteriaharvest (purify)protein (INSULIN)

transformedbacteria

plasmid

gene fromother organism+

recombinantplasmidvector

40Process in creating Transgenic organism: Step 1: Restriction enzyme is used to cleave the desired gene from a DNA sequence (ex. Insulin).Step 2: The same restriction enzyme is used to cleave the vector. Vector: The structure used to carry the foreign DNA, bacterial plasmids are commonly used.Plasmid: Circular DNA found in bacteria

Step 3: Foreign DNA and Vector spliced togetherSplice: Combine Step 4: The recombinant DNA is inserted into the host (bacteria cell). Then the host cell will copy and produce the protein.Insulin can be produced in large quantities by using genetic engineering and bacteria.

Warm-up Nov. 13th #47 Use the picture and yourNotes to explain the STEPSInvolved in GENETIC ENGINEERING

Grow bacteriamake more

growbacteriaharvest (purify)protein (INSULIN)

transformedbacteria

plasmid

gene fromother organism+

recombinantplasmidvector

44Finishing up unit 3!1. Finish your video from the lab we were completing Friday (EVERYONE in your group should be involved)2. Use the following website to help with completing of the genetic engineering review sheetwww. tinyurl.com/recombDNA

3. Then complete 3.4 Review and Preview

Homework: Dont Forget

We will review some, then test on ALL of unit 3! DNA structure, replication, protein synthesis, mendelian genetics, nonmendelian genetics, human genetics, pedigrees, karyotypes, genetic diseases, and biotechnology (DNA fingerprints, gene therapy, and genetic engineering)I. Bioethical Concerns for Genetic EngineeringShould we produce artificial proteins?Allergic reactions (adding a peanut gene to a corn plant)Stem cell researchEnvironmental problems from creating transgenic organisms:Super weedsAntibiotic resistant bacteriaDestruction of beneficial insects like bees by pesticides

Genetic Engineering SimulationAs you are working through the activity you will create an iMovie to EXPLAIN the process.EACH person in your group should EXPLAIN at least ONE step in the process (most will need to do 2). Using your manipulatives, explain the process as you are working through the steps. Then answer the lab questionsTicket Out the Door1. Why are restriction enzymes important when making a DNA fingerprint?

2. What do the bands represent on a DNA fingerprint?

3. Using the fingerprint to the right who are possible suspects for murder?

4. __________ DNA is another name for modified DNA that was genetically engineered.5. _________ organisms contain the new foreign DNA after the process of applying modified DNA.6. A ________ is used to carry the foreign DNA.

NO Warm-up today!!Get out Bio apps (pgs. 73-74)Dont Forget (pg. 75)

GRAFETTI reviewEach group will be given a DIFFERENT colored marker.You must add something you KNOW about each topic to the poster.DO NOT DUPLICATE information (read ALL information previous groups have written) . See me if you think something is inaccurate. You may add pictures, explanations, etc.