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Genetics Test 4
| Term | Definition |
|---|---|
| Recombinant DNA Technology | The use of in vitro molecular techniques to isolate and manipulate fragments of DNA |
| Recombinant DNA Molecules | Chimeric molecules, created in a lab |
| Gene Cloning | requires vectors, DNA from two different sources, and to break open the tissue and cells |
| Vector | Serves as the carrier for DNA segment, generally derived from plasmids and viruses, two important genes: ampR and lacZ |
| Host Cell | Cell which harbors the vector, the origin of replication determines whether a vector can replicate in the host cell |
| Selectable Marker | Most common is antibiotic resistance, shows that the vector integrated |
| Restriction Enzymes | Cut the DNA, occur naturally in many species of bacteria, often cut palindromic sequences |
| Enzyme Ligase | Seals the DNA into the cell DNA |
| ampR | Confers antibiotic resistance to the host, shows that the vector integrated |
| lacZ | Encodes beta-glactoside, shows that the vector integrated |
| Blue-White Screen | if the genes show up blue, the gene has not integrated |
| Cloning DNA Steps | RNA > reverse transcriptase > cDNA > vector > integrate |
| cDNA | Complementary DNA, no introns, can be single or double stranded |
| PCR Cloning | Developed by Kary Mullins in 1985, starts with template DNA, forward and reverse primers, Deoxynucleoside Triphosphate (dNTPs), Taq polymerase, and buffers/water, Denature, Anneal, Extend |
| Disadvantage of PCR | Cannot see protein products of the gene, all in vitro |
| PCR Cycles | About 25-35, DNA doubles every time |
| Denature | Break apart DNA (high temp) |
| Anneal | Hybridize the primers (low temp) |
| Extend | Synthesize new strand (high temp) |
| RT-PCR | Newer, uses RNA, reverse transcriptase, and cDNA, extrodinarily sensitive (crime scene DNA) |
| RT-qPCR | Real time PCR, carried using a florescent dye that the thermocycler detects and tracks it, normally uses TaqMan, higher concentration=earlier CT value |
| DNA Sequencing | Allows researchers to determine the base sequence of DNA, very important for studying molecular genetics |
| Dideoxy/Sanger Method | Uses a dideoxynulceotide to terminate the DNA strand, different dideoxys terminate at different sites, read with gel electrophoresis |
| Sanger Gel Electrophoresis | read from small to big then take the complement to discover the DNA sequence |
| Site-Directed Mutagenesis | A technique to make mutations within cloned DNA, occurs at a very specific site, clones using vectors and intentional mismatches that prompt the host cell to either mutate or repair |
| Southern Blotting | Detects DNA within a complex gene sequence |
| Northern Blotting | Used to detect RNA, RNA is extracted and purified, separated by gel electrophoresis and blotted, detected using floruscents and radioactivity |
| Western Blotting | Used to detect proteins, same but uses antibodies to recognize proteins |
| Biotechnology | Technologies that involve the use of living organisms and their products to benefit humans |
| Transgenic | An organism with DNA from multiple organisms (GMOs) |
| Microorganisms | Can be used to make antibiotics, insulin, and fermentation |
| Insulin | Hormone secreted by F cells in pancreas, regulates glucose levels, used to come from cows/pigs and human cadavers, now made using recombinant DNA |
| Insulin Synthesis | Put cDNA of human gene for insulin in E coli Cloned in two separate pieces and then combined |
| Biological Control | The use of microorganisms or their products to alleviate plant problems, nonpathogens compete with pathogens for space, produce toxins that inhibit other microorganisms or insects |
| Bioremediation | The use of microorganisms to reduce environmental pollutants, can break down oils or heavy metals, p-chemicals (forever chemicals) resist breakdown |
| Gene Replacement | Replace one gene with another |
| Gene knockout | Replace good gene with a bad gene |
| Gene Addition | Adding an extra gene |
| Gene Redundancy | Multiple genes contribute to the phenotype |
| Gene Knockin | A gene of interest is added to a specific spot on a genome |
| Molecular Pharming | The production of medicines in the milk of farm animals |
| Reproductive Cloning | Cloning the entire organism |
| Dolly | Sheep cloned from a somatic cell, egg cell, mammary cell, womb |
| Stem Cells | Cells that construct our bodies from a fertilized egg, have the capacity to divide and differentiate, offer the potential to cure disease, normally taken from embryos (requires abortion) |
| Totipotent | Can give rise to any cell type |
| Pluripotent | Can give rise to multiple cell types |
| Ti Plasmid | Carried by bacteria, naturally infects plants and transfers genes, can be genetically modified to transfer beneficial genes |
| Biolistic Gene Transfer | 2nd most common, gene gun is used to shoot DNA-covered microprojectiles into cells |
| Microinjection | Microscopic needles are used to inject DNA into cells |
| Electroporation | Electrical current is used to make transient pores that allow the DNA to enter |
| Gene Therapy | The introduction of cloned genes into living cells in an attempt to cure disease, works best in children/zygote, limited success in adults |
| Viral Gene Therapy | Most common are retroviruses |
| Nonviral Gene Therapy | Lipsome technique is most common, integrates into target cell |
| CRISPR-Cas 9 | Newest adenovirus and parvoviruses, break through in DNA editing, part of immune that can be modified to edit the genome |
| Genomics | The molecular analysis of the entire genome of a species |
| Genome | Total genetic composition of an organism |
| Functional Genomics | How the interaction of genes produces traits |
| Proteomics | The study of all the proteins encoded by the genome and their interactions |
| Cytogenetic Mapping | Relies on light microscopy, genes are mapped relative to band locations, used on eukaryotic chromosomes, FISH |
| Linkage Mapping | Relies on genetic crosses, genes are mapped relative to each other using map units |
| Physical Mapping | Relies on DNA cloning techniques, base pairs |
| In situ | In location |
| In Situ Hybridization | Can locate the position of any gene at a particular site, most commonly done using FISH (Fluorescent In Situ Hybridization), uses fluorescent microscope to detect probes that have been hybridized to a gene of interest |
| Molecular Markers | DNA segments that are found at a specific site and can be uniquely recognized, two most common are RFLPs and microsatillites |
| RFLP | Restriction fragment length polymorphisms |
| Microsatellites | Short, repetitive sequences abundant in the genome, vary length between individuals, used for DNA fingerprinting |
| Contigs | Contiguous region of a chromosome found as overlapping regions, how physical maps are constructed, artificial chromosomes are used as vectors (PAC, BAC, YAC, MAC) |
| Genome Sequencing Projects | Research endeavors aimed at determining the DNA sequence of the entire genome of a species, human genome project was the origin |
| High-Throughput Sequencing | Newer method that allows for cheaper, faster sequencing, AKA pyrosequencing, sequence the 1% that makes us unique |
| Pyrosequencing steps | Fragments the chromosomes, runs PCR using beads, drops the beads into wells, adds sequencing reagents, runs PCR and pyrophosphates are lost, get sequence by scanning light flashes |
| Metagenomics | Looking at several different genomes at once, a complex of genetic material obtained from an environmental sample |
| Metagenome | A collection of genes in a sample |
| Bioinformatics | Analyzing biological information using technology, use databases to store information that can be accessed through computer programs, great for identifying gene sequences |
| DNA Microarrays | Monitors thousands of genes simultaneously, AKA gene chips, small slide dotted with DNA sequences of known human genes, for testing whether those genes are present in a sample |
| Gene Chip Steps | Take RNA and make cDNA with fluorescent nucleotides Hybridize the cDNA with the gene chip Use a laser to detect the fluorescence |
| Proteomics | Larger because of alternative splicing, RNA editing, and posttranslational covalent modification, most common method is 2D gel electrophoresis |
| 2D Gel Electrophoresis | Step one: use pH to separate by charge in tube gel Step two: separate based on size in a slab gel |
| Mass Spectroscopy | Reveals the amino acid sequence, used in forensics |
| Tandem Mass Spectroscopy | Two machines feed into each other to get more accurate results |
| BLAST | Basic Local Alignment Search Tool, finds homologous sequences, most common genetics search engine |
| E-Value | The likely hood that a random match is likely to occur, smaller is better, the larger the query, the smaller the e-value and the better the match |
| Genetic Disease Pattern | Runs in the family Identical twins share it more often than fraternal Not contagious More common in select populations Develops at a certain age Resembles an animal genetic disorder Correlation between disease and gene mutation |
| Haplotypes | Haploid genome, linkage of alleles or markers on a single chromosome, used for detecting genetic mutations |
| Genetic Testing | Done on an individual |
| Genetic Screening | Done on a population, can be done at the protein level or the DNA/chromosome level |
| Amniocentesis | Fetal cells obtained from amniotic fluid |
| Choronic Villa Sampling | Fetal cells are obtained from choronic villi, faster but higher risk of miscarriage |
| Preimplantation Genetic Diagnosis (PGD) | Egg and sperm are combined in a lab, one or two cells are removed at the 8 cell stage, do genetic testing to check for problems |
| Prions | Proteinaceous infectious particles, discovered by Prusiner in 1982, misformed proteins, can be genetic or contagious, two conformations: PrPc and PrPsc |
| PrPc | Normal, does not cause disease |
| PrPsc | abnormal, causes disease, spreads when an abnormal protein touches a normal one |
| Cancer | A disease characterized by uncontrolled cell growth, 10% inherited, 10% viruses, 80% carcinogens |
| Benign | Non-cancerous |
| Malignant | Cancerous |
| Invasive | Invades healthy tissues |
| Metastatic | Moves throughout the body |
| Carcinogen | Environmental agent that causes cancer |
| Oncogenic Viruses | Cause cancers, sarcoma, hepetitis, herpes, etc. |
| Proto-oncogenes | Normal cells that become mutated oncogenes, mutate to become overactive |
| Epidermal Growth Factor | Causes growth |
| Ras | Can be mutated to constantly stay on and overproduces cells, most common oncogene associated with human cancers |
| Tumor Suppressors | Prevent the proliferation of cancer cells, can be mutated to become inactive, causing cancer cells to grow unchecked |
| P53 | Most common tumor suppressor gene, gets turned off and allows mutated cells to replicate |
| Personalized Medicine | The use of a patient's genotype to select a treatment that is suited for that patient |
| Molecular Profiling | Using various methods to understand the cause of a disease (best drug treatment) |
| Pharmacogenetics | Uses a patient's genotype to understand how they will transport, metabolize, and excrete a drug (best drug dosage) |
| Population Genetics | Genetic variations, extent within populations, why it exists, how it changes over time |
| Population | Group of individuals of the same species that occupy the same region and can interbreed with each other |
| Gene Pool | All the alleles of every gene in a population, what population geneticists study |
| Polymorphism | Variation of traits within a population |
| Allele Frequency | (number of copies of an allele)/(total number of alleles) |
| Genotype Frequency | (number of members with one genotype)/ (total number of members) |
| Hardy-Wienberg Equation | Formulated by Hardy and Wienberg in 1908, relates alleles and genotype frequencies to see if a population is stable or evolving, p^2+2pq+q^2=1, if the numbers don't match, the population is evolving |
| P | Dominant allele |
| Q | Recessive allele |
| Equilibrium | Unchanging allele and genotype frequencies, no new mutations, no genetic drift, no natural selection, no migration, random mating, only reached for very short periods in very large populations |
| Microevolution | Changes in a population's gene pool from generation to generation, driven by mutation, natural selection, random genetic drift, migration, and non-random mating |
| Natural Selection | 1850s, Darwin and Wallace propose it, struggle for existence, strongest survive and reproduce |
| Darwinian Fitness | Measure of Reproductive fitness |
| Directional Selection | The survival of one extreme phenotype that is better adapted to a certain environment |
| Balancing Selection | Maintenance of two or more alleles in a population (sickle cell disease) |
| Disruptive Selection | Favors the survival of two or more distinct phenotypes |
| Stabilizing Selection | Survival of individuals with intermediate phenotypes (bird clutch sizes) |
| Genetic Drift | Random changes in allele frequency due to random fluctuation (natural disasters) |
| Bottleneck Effect | Large Population with high diversity loses a large portion of the population which leads to loss of alleles and inbreeding |
| Founder Effect | Small group of start a new population, leads to in-breeding and genetic disease transmission |
| Migration | AKA gene flow, transfer of alleles from a donor population to a recipient population |
| Conglomerate | The new population after gene flow, to calculate allele frequencies, we need to know the frequencies of the initial population and the percentage of the new population that is migrants |
| In-Breeding | Mating between genetically related individuals, positive for maintaining desired characteristics but also leads to inbreeding depression which is a drop in overall fitness in the population |
| Outbreeding | Mating between nongenetically related individuals |
Created by:
RoseGrace
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