Term
| Chromosomal rearrangement and Leukemia |
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Definition
-Leukemia is the uncontrolled division of white blood cells
-Best established links is translocation between chromo 9 and 22 in chronic myelogenous leukemia or Philadelphia chromosome
-strong evidence that chromo rearrangements are not by-products of malignancy, but are important steps in the development of certain cancers |
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Term
| Hybrid genes and leukemia |
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Definition
-proto-oncogenes are located very close to the break point of chromosomal translocations involved with specific forms of leukemia, chromo breaks can convert proto-oncogenes to oncogenes.
-In CML, there is a translocation btw cells in chromo 9 and 22, produces a hybrid gene that encodes an abnormal protein that constantly signals CML cells to divide. |
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Term
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Definition
-Used in treatment of cancer
-targets and kills rapidly dividing cells, that includes cancer cells as well as bone marrow cells, and intestine cells, causes serious side effects for patients |
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Term
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Definition
-New drug developed to treat CML
-Targets the hybrid protein and prevents it from getting ATP, causing it to be inactive
-90% of patients treated with this drug go into remission and show a dramatic reduction in white blood cells with Philadelphia chromosome.
-Similar technique used to develop more accurate cancer tests |
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Term
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Definition
the study of factors that control the presence, absence or frequency of a disease
-it is an indirect and inferential science that provides correlations between enviro agents and the existence of a disease like cancer
-must be confirmed in lab on animal models then extensive human clinical studies
-measures cancer in several populations
-estimates that 50% of all cancers are related to environmental factors |
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Term
| Environmental Factors- Cancer |
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Definition
-85% lung cancer in men and 75% in women is due to smoking
-Responsible for 30% of all cancer deaths
-UV light is responsible for almost all skin cancer reports in US, tanning or the sun, increase in outdoor activities, higher risk for light pigmented individuals |
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Term
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Definition
molecules, cells or individuals derived from a single ancestor
-DNA cloning had great impact on genetic research |
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Term
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Definition
1950s
-grew carrot from single cell
-callus- ball of undifferentiated cells
-transferred to nutrient medium, grew into full sized carrots
-variations of this method have been used to clone plants of several species
-used in lumber to create trees that all develop at the same time |
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Term
| Animal Cloning- Embryo Splitting |
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Definition
| An unfertilized egg is collected, then fertilized in a dish through in vitro fert. It is allowed to develop until 8-10 cell stage, cells are separated, each cell is allowed to grow into separate embryo. Then are implanted into a surrogate mother. |
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Term
| Animal Cloning- Nuclear Transfer |
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Definition
-more difficult, but can yield larger number of offspring
-first successful instance was 1986
-1997- Dolly sheep
-eggs are collected, nucleus is removed from each egg under a microscope. Each ennucleated egg is fused with a single cell taken from a 16-32 cell embryo. They are grown then transferred into surrogate mother
-Later, it became possible to use older, somatic cells to produce a cloned animal
-Success rate is very low, but has great impact on farming |
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Term
| Requirements of Cloning DNA |
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Definition
-A way to cut the DNA at specific sites consistantly to produce managable pieces
-a carrier molecule to hold the DNA for cloning
-A place where the DNA can be copied or cloned |
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Term
| Recombinant DNA technology |
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Definition
| a series of techniques in which DNA fragments are linked to self-replicating vectors to create recombinant DNA molecules, which are replicated in a host cell. |
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Term
| Restriction enzymes or endonucleases |
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Definition
bacterial enzymes that cut DNA at specific sites
-over 100 known RE proteins
-can cut across one strand or two, only one can cause sticky tails, they pair with complementary tails to produce rDNA molecules
-this allows scientists to link cut DNA to other DNA cut with the same restriction enzyme to produce rDNA molecules. |
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Term
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Definition
Self-replicating DNA molecules that are used to transfer foreign DNA segments between host cells
-Plasmids are an example of vectors |
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Term
| Steps to cloning DNA with plasmids |
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Definition
1. DNA is cut with restriction enzyme to produce fragments that end in specific sequences.
2. The fragments are mixed with vector molecules cut with the same enzyme, producing rDNA molecules joined together by DNA ligase
3. Plasmid vectors carrying inserted DNA fragments are transferred into bacterial cells where the recombinant plasmids replicate and produce many copies or clones of rDNA molecules
4.Colonies carrying inserted DNA molecules can be identifies, collected and grown.The host cells are broken open, and the recombinant plasmids are extracted. |
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Term
| How to identify colonies with plasmids carrying DNA fragments |
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Definition
introducing antibiotic resistance genes into the plasmid, along with desired gene to be replicated. Ampicillin and Tetracyclin.
Test in cultures, want the plasmids that grow on ampicillin plates but not on tetracyclin. Those plasmids are the ones carrying DNA fragments
p316 |
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Term
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Definition
-Takes too long
-Much more work
-expensive process |
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Term
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Definition
a collection of clones that contain all the genetic info in an individual
-can also have a chromosomal library and an expressed sequence library (certain cell type)
-Number of clones needed to hold info depends on the size of the genome
-Larger vectors like yeast artificial chromosomes can carry more genetic material
-human genome can be carried in only 300 YACs
-can be searched to find specific gene |
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Term
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Definition
-a labeled nucleic acid used to identify a complimentary region in a clone or genome
-short DNA or RNA molecules with a nucleotide sequence that is complementary to some portion of the gene that is being searched for.
-labeled with florescent or radioactive compounds
-used to find a specific gene or sequence in a genomic library |
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Term
| Polymerase Chain Reaction (PCR) |
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Definition
invented in 1986
-a method for amplifying DNA segments using cycles of denaturation, annealing to primers and DNA polymerase-directed DNA synthesis |
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Term
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Definition
1. DNA is heated to break hydrogen bonds between two chains of DNA, creating two single stranded molecules which will serve as templates. The heating process is called denaturation- 90 degrees celcius
2. At lower temp, short nucleotide sequences acting as primers for DNA replication are mixed in, they bind to complementary regions on the single stranded DNA fragments. Primers are synthesized in the lab and are usually 20-30 nucleotides long. This process of heating and cooling to bind primers is called annealing.
3. The enzyme Taq polymerase (from a bacterial species found in a hot springs) is added. Beginning at the primers, it synthesized a complementary DNA strand.
4. These three steps make up one PCR cyle, only takes about 30 min, each cycle doubles sample, only need small amount of DNA, very useful for forensics, etc.
p321 for diagram |
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Term
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Definition
Edward Southern created procedure
-uses cloned DNA fragments, and seperates them by size using electrophoresis
-Once seperated, are transferred to filters and screened with probes
-Can be used to find differences between normal and mutant alleles, identify related genes in other organisms and study gene evolution. |
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Term
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Definition
DNA is extracted, cut into fragments with endonuclease. Put in gel with solution, electrophoresis used, smaller fragments found at the bottom, travel faster.
DNA is stained to show number and location, seperated into single strand with chemical bath.
Transfered onto DNA-binding membrane by using paper towels and salt solution to pull fragments from gel to membrane. The membrane is placed in bag with single stranded probe, they are heated and the matching probe and fragment form hybrids. The unbound probes wash away and the hybridized ones are left behind. Then xray film is exposed and can see where the fragment is located. |
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Term
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Definition
a technique for determining the nucleotide sequence of a fragment of DNA
-Human Genome Project
-Several methods: automated version of Sanger method
-DNA in single strands, each strand as a template for the synthesis of a complementary strand, add DNA polymerase, a primer, nucleotides and some chemically altered nucleotides. Each altered is linked to florescent dye.... (didnt think the rest was that important) |
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Term
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Definition
the use of recombinant DNA technology to produce commodities or services like:
-pharmaceutical products in genetically altered plants and animals
-produce new varieties of agricultural plants and animals
-generate animal models of human diseases
-diagnose and treat disease
-prepare DNA profiles used in forensic applications and other fields
-some ethical controversies have arisen out of this new technology |
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Term
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Definition
product of biotechnology
-in 1982, ability to make human insulin was invented
-also produce growth hormones and blood clotting factors
-previously took cow and pig insulin, human built up immunity
-now can grow human insulin in lab |
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Term
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Definition
refers to the tranfer of genes between species by rDNA technology, transgenic organisms have received such a gene
-can have transgenic plants and animals, often acting as a vector for growing human enzymes, genes or proteins. |
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Term
| Genetically Modified Organisms (GMOs) |
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Definition
| a general term used by the media to refer to transgenic plants and animals |
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Term
| Herbicide resistant crops |
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Definition
genetically altered crops that carry a resistance to herbicide that kills all other plants in area, lowers number of herbicides needed, breaks down quickly in soil, reduces chemical runoff.
-worries that resistance gene may be transmitted to surrounding weeds. |
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Term
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Definition
Crops like corn, soy and cotton which have a bacterial gene in them which produces a toxin in bug's gut, causing death
-issues of ruining ecosystems |
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Term
| Added nutrition and vitamins |
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Definition
plants now being altered to increase nutritional content
-areas with vitamin deficiencies are being given local crops with added vitamins or proteins that facilitate vitamin synthesis
-ex. golden rice in asia and vitamin a deficiency |
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Term
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Definition
people worried that there will be later side effects, not entire generation yet, cant predict long term effects
-undiscovered allergies
-loss of biodiversity, homogeneity= epidemics |
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Term
| Genetic Similarities: humans vs animals |
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Definition
| Mice and Drosophila= 90% genetic similarities to humans |
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Term
| Mice as models for human disease |
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Definition
goals of this are to:
-produce an animal with symptoms that mirror those in humans
-use the model to study the development and progress of the disease
-test treatments that will cure the model organism of a human disease |
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Term
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Definition
the use of methods to determine if someone has a genetic phenotype for genetic disorder or is a carrier
-done on individuals to test who carry a genetic disease, at risk of passing it on to children or those who may have a suseptability to environmental aspects |
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Term
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Definition
the systematic search for individuals in a population who have certain genotypes
-often a matter of law
-done on an entire population to ensure they are not affected |
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Term
| Types of testing/screening |
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Definition
-screening for newborns for metabolic disorders, required in US for range of disorders like PKU
-carrier testing on family members or cultural groups with a history of genetic disorder (sickle cell)
-prenatal testing for cystic fibrosis
-presymptomatic testing or predictive testing for adult onset disorders like huntingtons
-For disorders with a single mutation, like sickle cell, testing is very effective. But for cystic fibrosis where there are many possible mutations, testing if very difficult. |
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Term
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Definition
a series of short nucleotide sequences placed on a solid support (like glass) that have several different uses, such as detection of mutant genes or differences in the pattern of gene expression in normal and cancerous cells.
-can be used to screen all known mutations of a gene or a person's entire genome
-used to detect mutations and measure gene expression
-use a two color marking system; green for normal and red for gene being tested.
-Yellow dots show where both genes are present
-Used to test for p53, tumor suppressor gene, cancer |
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Term
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Definition
| Nucleotide sequences 14-100 base pairs long organized into clusters of varying lengths, used in the construction of DNA fingerprints |
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Term
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Definition
| Detection of variations in minisatellites used to identify individuals |
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Term
| Short Tandem Repeats (STRs) |
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Definition
short nucleotide sequences 2-9 base pairs long organized into clusters of varying lengths, used in the construction of DNA profiles/fingerprints
-amplified using PCR, Southern Blot, and visualization=DNA profile |
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Term
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Definition
the pattern of STR allele frequencies used to identify individuals
-can use very small piece of DNA or very old DNA |
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Term
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Definition
-Forensics
-clearing or incriminating people from cold cases
-sexual assault cases
-paternity testing
-FBI has catalogued the DNA profiles of convicted felons and suspects, database of reference
-identify body parts
-confirm lineage
-purebred animals |
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Term
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Definition
-took 13 yrs
-$3 billion to complete= $1 per base nucleotide
-now that technology is developed, it only takes $0.05 per BN.
-most people can have their genome mapped for only $1000.
-but issues arise over who owns info and how it should be used.
-Began in 1990
-was coordinated by 2 agencies: the National Institutes of Health and The Department of Energy
-Both directed by James Watson
-Set up the ELSI program to deal with ethical, legal and social implications
-wanted to sequence all human DNA, id and map all genes and establish their functions
-other countries joined the Human Genome Organization (HUGO) japan, UK, germany
-found that human genome has 3.2 billion nucleotides
-had to develop tons of new technology to discover, sort and file all the info |
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Term
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Definition
one of the basic activities of human genetics
-several ways to do it... |
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Term
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Definition
a condition in which two or more genes do not show independant assortment. Rather, they tend to be inherited together. Such genes are located on the same chromosome. When the degree of recombinant between linked genes is measured, the distance between them can be determined.
-Discovered in 1936 by Julia Bell and JBS Haldane, used pedigree analysis to prove that color blindness and hemophilia are both on x chromo and linked
-more difficult to map genes to individual autosome, requires large family with two genetic disorders and accurate pedigree, very hard |
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Term
| Genetic Map- How is it made? |
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Definition
1. finding linkage between two genes establishes that they are on the same chromo. 2. measuring how frequently crossing-over takes place between them establishes the distance between them
-the units of distance are percentage of recombination or centimorgan (cM)
-laborious, inefficient and inconsistent |
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Term
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Definition
a probability technique that is used to determine if two genes are linked
-software like LINKMAP, measures probability that genes are linked and the prob that they arent linked.
-lod score is the ratio of probability btw linked and not linked expressed as logv10. Score of 3 or more is considered as established linkage |
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Term
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Definition
a recombinant DNA based method of mapping and cloning genes with no prior information about the gene product or its function
-used to map cystic fibrosis, neurofibromatosis, Huntigtons, etc |
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Term
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Definition
| the study of the organization, function and evolution of genomes |
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