A growth factor is a naturally occurring substance capable of stimulating cellular growth, proliferation and cellular differentiation. Usually it is a protein or a steroid hormone. Growth factors typically act as signaling molecules between cells.
two things a cell needs in order to survive
1. space - contact inhibition
2. good grip - anchorage dependence
cells that break survival rules
cancer cells (overgrowth of cells, breaks rule #1, how cancer spreads, breaks rule #2)
protective cap at the end of each chromosome, cell dies when it starts to eat away at genes
make new cells that have half the chromosomes of the original cell, contain half of genetic information
1. crossing over
2. independent assortment of chromosomes
3. random fertilization
identical copies on a chromosome, joined together by the centromere and eventually separating during mitosis or meiosis 2, until they divide they are considered a single chromosome
a single member of a pair of sister chromatids, only called chromatids when joined, called chromosome when they take place in mitosis or meiosis 2
chromosome pairs of the same length, centromere position and staining pattern that possess genes for the same characters/traits at corresponding loci, one pair paternal, or maternal
why inheritance is important
1. allows life to give rise to similar life
2. allows good traits to be passed on (evolution, adaptation)
mendels law of independent assortment
dominant and recessive don't always sort together, equal probability
occurs when a heterozygote exhibits an intermediate phenotype between two homozygotes
one gene effecting many traits
1. disrupts red blood cells
2. causes cells to be inhospitable to material parasites
fatal dominant autosomal disease, onset 30s and 40s, late onset (after reproduction)
most disorders are autosomal recessive diseases
DD - not affected
dd - affected
Dd carriers (not affected, but can pass it on)
to have normal vision
female can inherit normal vision from mom or dad
male must inherit normal vision from mom
Aneuploidy is an abnormal number of chromosomes, and is a type of chromosome abnormality. An extra or missing chromosome is a common cause of genetic disorders (birth defects).
webbed skin between neck and shoulders
A trisomy is a type of polysomy in which there are three copies, instead of the normal two, of a particular chromosome. A trisomy is a type of aneuploidy (an abnormal number of chromosomes).
development of some female features
when ribosome reaches a stop codon, the ribosome releases the mRNA and the proteins, translation ends.
DNA-cutting proteins found primarily in bacteria. Enzymes cleave (cut) the phosphodiester backbone of double-stranded DNA at specific nucleotide sequences (restriction sites). Commercially available restriction enzymes are essential for molecular biology experiments.
Small, circular, self-replicating double-stranded DNA molecules found primarily in bacterial cells. Plasmids often contain genes coding for antibiotic resistance proteins and are routinely used for DNA-cloning experiments.
A word or phrase that reads the same forward and backward (for example, "a toyota"). In the context of biotechnology, a DNA sequence with complementary strands that reads the same forward and backward. Most restriction enzyme recognition sequences are palindromes.
Specific sequence of DNA nucleotides recognized and cut by a restriction enzyme.
Overhanging single-stranded ends of a DNA molecule created by the action of certain restriction enzymes.
Double-stranded ends of a DNA molecule created by the action of certain restriction enzymes.
DNA (or viruses) that can be used to carry and replicate other pieces of DNA in molecular biology experiments; for example, plasmid DNA, viruses used for gene therapy; also refers to organisms that carry disease.
The process by which bacteria take in DNA from the surroundings. Term also is used to define changes that cause a normal cell to become a cancer cell.
A process for transforming bacteria with DNA that uses electrical shock to move DNA into cells; can also be used to introduce DNA into animal and plant cells.
Laboratory technique used to identify bacteria containing recombinant DNA of interest; involves growing bacteria on media with antibiotic or other selection molecules.
RNA polymerase promoter
Copies RNA from a DNA template; different forms of RNA polymerase synthesize different types of RNA.
The number of copies of a particular DNA molecule or gene sequence such as a plasmid in a bacterial cell.
Protein hormone produced by cells of the pancreas; involved in glucose metabolism by cells; deficiencies in insulin production or insulin-receptor production can cause different forms of diabetes.
The recombinant form of human insulin, became the first recombinant DNA product to be approved for human applications by the U.S. Food and Drug Administration.
A process of bacteriophage replication that involves phages infecting bacterial cells and then replicating and rupturing (lysing) the bacterial host cells.
Small clear spots of dead bacteria appearing on a culture plate, caused by bacterial cell lysis by bacteriophage.
DNA vector such as a plasmid that can be used to produce (express) proteins in a cell.
Large circular double-stranded DNA vector that is used for gene-cloning experiment in bacteriophages.
Large circular vectors that can replicate very large pieces of DNA; used to clone pieces of human chromosomes for the Human Genome Project.
Plasmid vectors grown in yeast cells that can replicate very large pieces of DNA; used to clone pieces of human chromosomes for the Human Genome Project.
Plasmid DNA vector derived from soil bacterium that can be used to clone genes in plant cells and deliver genes into plants.
Complementary DNA libraries
DNA copies of all mRNA molecules expressed in an organism′s cells; can be "screened" to isolate genes of interest.
Viral polymerase enzyme that copies RNA into single-stranded DNA. This commercially available enzyme is used for many molecular biology experiments, such as creating cDNA.
Viruses that contain an RNA genome and use reverse transcriptase to copy RNA into DNA during the replication cycle in host cells.
A single-stranded radioactive or nonradioactive DNA fragment that is complementary to the gene of interest
Short, single-stranded synthetic DNA sequences; used in PCR reactions and as DNA probes.
Laboratory technique for amplifying and cloning DNA; involves multiple cycles of denaturation, primer hybridization, and DNA polymerase synthesis of new strands.
Taq DNA polymerase
DNA-synthesizing enzyme isolated from Thermus aquaticus, a thermophilic Archae that lives in hot springs; its ability to withstand high temperatures (thermostable) without denaturation makes it valuable for use in PCR experiments.
An arrangement or "map" of the number, order, and types of restriction-enzyme cutting sites in a DNA molecule.
Agarose gel electrophoresis
Laboratory procedure that involves using an electrical charge to move and separate biomolecules of different sizes, such as DNA, RNA, and proteins, through a semisolid separating gel matrix. Examples include agarose gel electrophoresis and polyacrylamide gel electrophoresis (PAGE).
Tracking dye that penetrates (intercalates) between the base pairs of DNA. Commonly used to stain DNA in gels because ethidium bromide fluoresces when exposed to ultraviolet light.
Laboratory technique for determining the nucleotide "sequence" or arrangement of A, G, T, and C nucleotides in a segment of DNA.
modified nucleotide. A ddNTP differs from a normal deoxyribonucleotide (dNTP) because it has a hydrogen group attached to the 3′ carbon of the deoxyribose sugar instead of a hydroxyl group-OH.
Fluorescence in situ hybridization
Laboratory technique that uses single-stranded DNA or RNA probes labeled with fluorescent nucleotides to identify gene sequences in a chromosome or cell in situ (Latin for "in its original place").
Laboratory technique invented by Ed Southern that involves transferring (blotting) DNA fragments onto a filter-paper blot for use in probe hybridization studies.
Laboratory technique for separating RNA molecules by gel electrophoresis and transferring (blotting) RNA onto a filter paper blot for use in hybridization studies.
Laboratory technique for separating protein molecules by gel electrophoresis and transferring (blotting) proteins onto a filter paper blot that is usually probed with antibodies to study protein structure and function.
A chip consisting of a glass microscope slide containing thousands of pieces of single-stranded DNA molecules attached to specific spots on the slide; each spot of DNA is a unique sequence.
Uses primers made with fluorescent dyes and specialized thermal cyclers that enable researchers to quantify amplification reactions as they occur
With this technique, mutations can be created in specific nucleotides of a cloned gene contained in a vector. The gene can then be expressed in cells, which results in translation of a mutated protein. This allows researchers to study the effects of particular mutations on protein structure and functions as a way to determine what nucleotides are important for specific functions of the protein.
Small (21 or 22 nt) double-stranded pieces of nonprotein coding RNA, so named because they were shown to bind to mRNA and subsequently block or interfere with translation of bound mRNAs.
Interdisciplinary science that involves developing and applying information technology (computer hardware and software) for analyzing biological data such as DNA and protein sequences; also includes the use of computers for the analysis of molecular structures and creating databases for storing and sharing biological data.
national center for biotechnology information
formed the RAC which was charged with evaluating risks of recombinant DNA technology
Renowned public database of DNA sequences provided by researchers throughout the world; resources for sharing and analyzing DNA sequence information.
Process by which DNA is copied; one original (parent) DNA molecule gives rise to two molecules, each of which has one original strand and one new strand.
Single-stranded binding protein
Proteins that bind to unraveled single strands of parental DNA during DNA replication to prevent DNA from reforming double strands before being copied.
Oligonucleotides complementary to specific sequences of interest; used in PCR reactions to amplify DNA and DNA-sequencing reactions.
Key enzyme that copies strands of DNA during DNA replication to create new strands of nucleotides; has important applications for synthesizing DNA in molecular biology experiments.
During DNA replication, the strand of newly synthesized DNA that is copied by DNA polymerase in a continuous fashion, 5′ to 3′ into the replication fork.
During DNA replication, the strand of newly synthesized DNA that is copied by DNA polymerase in a discontinuous (interrupted) fashion, 5′ to 3′ away from the replication fork as a series of short DNA pieces called Okazaki fragments.
Enzyme that forms covalent bonds between incomplete (Okazaki) fragments of DNA during DNA replication; routinely used for joining DNA fragments in recombinant DNA experiments.
What is Genomics?
Study of molecular organization, genomes, information content, and gene products they encode.
What is another name of the Sanger DNA Sequencing?
The Chain-Termination DNA Sequencing Method. (it terminates the chain at some point)
What is the sugar the Chain-Termination DNA Sequencing Method uses?
Dideoxynucleoside triphosphates (ddNTP).
What is in the pentose sugar in ddNTP that's different from DNA? What is the purpose?
An H atom is inserted instead of the hydroxyl group present in DNA and it terminates the chain.
What is the first step in the Sanger Method?
Single strands of DNA are mixed with DNA Polymerase I, 4 deoxynucleotides, and a small amount of one ddNTP.
What is the second step?
DNA Synthesis, and RANDOM insertion of ddNTP's creat DNA fragments of varying lengths.
How many reactions are carried out in the Sanger Method?
Four (think of four nucleotides), and each with a different dNTP/ddNTP.
What is the difference between the traditional Sanger Sequencing with the Automated Sequencing?
It uses four different fluorescent dyes instead of radiolabeled ddNTP.
What are 3 types of more rapid, less cumbersome, and less expensive methods as an alternative to the Sanger DNA Sequencing?
Pyrosequencing, SOLEXA Sequencing, SOLiD Technology.
What does Bioinformatics provide?
Structure, arrangement, protein structure and function, and location of genes on newly sequenced genome.
What is the kind of reading frame that the Genome Annotation identifies?
One with more than 100 Codons and is not interrupted by a stop codon.
What does the BLAST provide?
Base by base comparison of two or more gene sequences, function of gene, and protein structure.
What information does Functional Genomics Provide?
Metabolic Pathways, transport mechanisms, regulatory and signal transduction mechanisms.
How does Microarray analysis work?
Based on the hybridization of DNA probe and targets, which are the nucleic acids, are analyzed.
How are the target (nucleic acids) prepared for microarray analysis?
They are labeled with fluorescent dyes, and then incubated with gene chip.
How is hybridization detected in microarray analysis?
By the scanning of chip with laser beams to detect fluoresence--indicates hybridization has occurred.
What is the hierarchical cluster analysis?
Groups of genes with similar function or patterns of regulation.
What is proteomics?
Study of the proteome, entire collection of proteins an organism produces. (This is not available in mRNA studies)
How is the first dimension arranged?
It is in isoelectric focusing--makes a pH gradient which determines the isolectricpoint.
How is Tandem Mass Spectrometry analyzed?
By mass spectrometer, the mas of fragments is then plottedn amd protein is accurately described from probable amino acid composition.
What is Genomics
Study of entire genome; how a set of genes interact with each other and the environment
What is Pharmacogenetics (PGx)
Study of how specific genes cause variability in drug response & toxicity
What is Sir Archibald Garrod famous for
Alkaptonuria, inborn errors of metabolism (Homogentisic acid oxidase deficiency in Alkaptonuria)
Ferritin is needed to
Store iron, in presence of Iron its IRE-BP is bound to iron and unable to inhibit its translation
Transferrin is needed to
Import Iron into the cell, Low levels of iron will leave the IRE-BP free to bind and stabilize the mRNA
Name the post-translational modifications
Folding, Degradation, Proteolytic cleavage, and Phosphorylation, Glycosylation
What is Genetic anticipation
Caused by trinucleotide repeat expansion, found in exons, introns, as well as 5' or 3' UTRs
What is Genetic imprinting
Imprinted genes are expressed from only one chromosome, if this chromosome is absent or has a defect there will be a defect
Prader-Willi Syndrome (PWS) is caused by
Genetic imprinting, Obesity, short-stature, hypogonadism, mental retardation
Sister syndrome of Prader-willi, due to maternal deletion instead of pateranal on chromo 15
Southern blotting involves and is used for
Involves Restriction enzymes on DNA and can be used to determine the presence of specific DNA sequences
Restriction Fragment Length polymorphisms (RFLP) involves and is used for
Involves restriction sites and determining whether a gene has a restriction site mutation
Northern blot involves and is used for
involves isolating RNA and using specific DNA or RNA probes and is used to study gene expression
PCR involves and is used for
Involves amplifying a region of DNA by using set primers in both the 5' and 3' direction, and then amplifying them over and over; it is used to examine DNA
RT-PCR involves and is used for
Involves mRNA making DNA and then amplifying DNA using gene-specific primer; can be used to help determine gene expression (need only a small sample size)
DNA microarrays involves and is used for
Involves comparing two single stranded DNA (antisense) strands to figure out whether DNA will overexpress or downregulate specific genes
2D Gel electrophoresis involves and is used to
Involves mass spectrometry and allows you to predict which proteins are present or upgregulated
A Haplotype is
A set of neighboring SNPs within a gene that tend to be inherited together (More than 3 SNPs)
BAC (Bacterial artificial chromosome)
An artificial version of a bacterial chromosome that can carry inserts of 100,000 to 500,000 base pairs.
A limited gene library using complementary DNA. The library includes only the genes that were transcribed in the cells examined.
An agent used to transfer DNA in genetic engineering. A plasmid that moves recombinant DNA from a test tube back into a cell is an example, as is a virus that transfers recombinant DNA by infection.
cDNA (complementary DNA)
A DNA molecule made in vitro using mRNA as a template and the enzyme reverse transcriptase. A cDNA molecule therefore corresponds to a gene, but lacks the introns present in the DNA of the genome.
In DNA, the separation of the 2 strands of the double helix. Denaturation occurs under extreme conditions of pH, salt concentration, and temperature.
An individual's unique collection of DNA restriction fragments, detected by electrophoresis and nucleic acid probes.
DNA microarray assay
A method to detect and measure the expression of thousands of genes at one time. Tiny amounts of a large number of singe-stranded DNA fragments representing different genes are fixed to a glass slide. These fragments, ideally representing all the genes of an organism, are tested for hybridization with various samples of cDNA molecules.
A technique to introduce recombinant DNA into cells by applying a brief electrical pulse to a solution containing cells. The electricity creates temporary holes in the cells' plasma membranes, through which DNA can enter.
A cloning vector that contains the requisite prokaryotic promoter just upstream of a restriction site where a eukaryotic gene can be inserted.
The separation of nucleic acids or proteins, on the basis of their size and electrical charge, by measuring their rate of movement through an electrical field in a gel.
Genetically modified organism
An organism that has acquired one or more genes by artificial means; also known as a transgenic organism.
A set of thousands of DNA segments from a genome, each carried by a plasmid, phage, or other cloning vector.
Human Genome Project
An international collaborative effort to map and sequence the DNA of the entire human genome.
In vitro mutagenesis
A technique to discover the function of a gene by introducing specific changes into the sequence of a cloned gene, reinserting the mutated gene into a cell, and studying the phenotype of the mutant.
Nucleic acid hybridization
Base pairing between a gene and a complementary sequence on another nucleic acid molecule.
Nucleic acid probe
In DNA technology, a labeled single-stranded nucleic acid molecule used to tag a specific nucleotide sequence in a nucleic acid sample. Molecules of the probe hydrogen-bond to the complementary sequence wherever it occurs; radioactive or other labeling of the probe allows its location to be detected.
A genetic map in which the actual physical distances between genes or other genetic markers are expressed, usually as the number of base pairs along the DNA.
Polymerase chain reaction (PCR)
A technique for amplifying DNA in vitro by incubating with special primers, DNA polymerase molecules, and nucleotides.
A degradative enzyme that recognizes and cuts up DNA (including that of certain phages) that is foreign to a bacterium.
(Restriction fragment length polymorphisms) RFLPs
Differences in DNA sequence on homologous chromosomes that can result in different patterns of restriction fragment lengths (DNA segments resulting from treatment with restriction enzymes); useful as genetic markers for making linkage maps.
A specific sequence on a DNA strand that is recognized as a cut site by a restriction enzyme.
A hybridization technique that enables researchers to determine the presence of certain nucleotides sequences in a sample DNA.
A plasmid of a tumor-inducing bacterium that integrates a segment of its DNA into the host chromosome of a plant; frequently used as a carrier for genetic engineering plants.
YAC (yeast artificial chromosome)
A vector that combines the essentials of a eukaryotic chromosome-an origin for DNA replication, a centromere, and two telomeres- with foreign DNA.
the study of the roles of genetic sequences-DNA,RNA, and amino acid sequences- in a given species
the use of computers, mathematical tools, and statistical techniques to record, store and analyze biological information.
a small silica or plastic slide that is dotted with many different sequences of DNA, corresponding to short sequences within known genes.
the statistical technique to identify genes whose patterns of expression seem to strongly correlate with one another.
a method to determine whether proteins can bind to a particular region of DNA.
a form of chromatin immunoprecipitation that utilizes a microarray to determine where in the genome a particular protein binds.
postranslational covalent modification
modification in the covalent structure of a protein after it has been translated.
two-dimensional gel electrophoresis
a technique that can separate up to thousands of different proteins within a cell.
tandem mass spectrometry
the use of two mass spectrometers, the first to analyze the full protein, and the second to analyze the protein after it has been broken down into smaller fragments. used to determine the amino acid sequence of a polypeptide.
an approach of searching for genes by using known promoters, start or stop codons to predict whether or not a DNA sequence contains a gene.
an approach of searching for genes by identifying regions in a sequence that differ significantly from what would be expected in a random distribution.
multiple sequence alignment
The arrangement of two or more amino acid or base sequences from an organism or organisms in such a way as to align areas of the sequences sharing common properties.
basic local alignment search tool
a computer program that starts with a particular sequence and then locates homologous sequences within a large database. Easier among proteins than DNA
the number of times that a match with a particular sequence would be expected to occur purely by random chance.
homology based modeling
the modeling of a three-dimensional structure of a molecule based on its homology to another molecule whose structure is already known.
An enzyme encoded by some certain viruses (retroviruses) that uses RNA as a template for DNA synthesis.
The synthesis of a polypeptide using the genetic information encoded in an mRNA molecule. There is a change of "language" from nucleotides to amino acids.
the process of transfering genetic material from one cell to another by a plasmid or bacteriophage
In prokaryotes, the direct trasfer of DNA between two cells (of the same or different species) that are temporarily joined.
a segment of DNA that can become integrated at many different sites along a chromosome (especially a segment of bacterial DNA that can be translocated as a whole)
The basic, beadlike unit of DNA packing in eukaryotes, consisting of a segment of DNA wound around a protein core composed of two copies of each of four types of histone.
A small protein with a high proportion of positively charged amino acids that binds to the negatively charged DNA and plays a key role in its chromatin structure.
Eukaryotic chromatin that remains highly compacted during interphase and is generally not transcribed.
the 30-nm fiber forms loops atached to a chromosome scaffold made of proteins, thus making up a 300-nm fiber.
RFLP (Restriction Fragment Length Polymorphism)
A single nucleotide polymorphism (SNP) that exists in the restriction site for a particular enzyme, thus making the site unrecognizable by that enzyme and changing the lengths of the restriction fragments formed by digestion with that enzyme. This can be in coding or noncoding DNA.
PCR (polymerase chain reaction)
technique for amplifying DNA sequences in vitro by incubating it with specific primer, a heat resistant DNA polymerase, and nucleotides.
single-stranded DNA that is complementary to messenger RNA or DNA that has been synthesized from messenger RNA by reverse transcriptase
any of the enzymes that cut nucleic acid at specific restriction sites and produce restriction fragments
An enzyme that connects two fragments of DNA to make a single fragment. Combines foreign DNA fragment with plasmid through phosodiester linkages thus making a recombinant plasmid.
a small, circular, double-stranded DNA molecule that carries accessory genes separate from those of a bacterial chromosome.
An RNA virus that reproduces by transcribing its RNA into DNA and then inserting the DNA into a cellular chromosome; an important class of cancer-causing viruses.
A specific nucleotide sequence in DNA that binds RNA polymerase and indicates where to start transcribing RNA.
normal cellular genes that are important regulators of normal cellular processes, they promote growth. alterations in the expression of these cells resulr in oncogenes
a gene found in viruses or as part of the normal genome that is involved in triggering cancerous characteristics
tumor suppressor genes
A gene whose protein products inhibit cell division, thereby preventing uncontrolled cell growth that contributes to cancer.
(1) A lineage of genetically identical individuals or cells. (2) In popular usage, a single individual organism that is genetically identical to another individual. (3) As a verb, to make one or more genetic replicas of an individual or cell. See also gene cloning.
A specific sequence on a DNA strand that is recognized as a "cut site" by a restriction enzyme.
a single stranded end of a double-stranded restriction fragment. (formed by restriction enzymes)
In genetic engineering, a DNA molecule that can carry foreign DNA into a host cell and replicate there. _________ _________s include plasmids that move recombinant DNA from a test tube back into a cell and viruses that transfer recombinant DNA by infection.
nucleic acid hybridization
The process of base pairing between a gene and a complementary sequence on another nucleic acid molecule.
For proteins, a process in which a protein unravels and loses its native conformation, thereby becoming biologically inactive. For DNA, the separation of the two strands of the double helix. _______ occurs under extreme conditions of pH, salt concentration, and temperature.
A cloning vector that contains the requisite bacterial promoter just upstream of a restriction site where a eukaryotic gene can be inserted, allowing the gene to be expressed in a bacterial cell.
YAC (yeast artificial chromosome)
a vector that combines the essentals of a eukaryotic chromosome (an origin for DNA replication, a centromere, and two telomeres) with foreign DNA
1.exposing DNA to high temperatures to force them to separate 2.cools DNA, allowing primers to bind (anneal) to target DNA 3.temperature is raised again so that polymerase can attach to primers and make complementary strand
a set of cell clones containing all the DNA segments from a genome, each within a plasmid, phage, or other cloning vector
procedure used to separate and analyze DNA fragments by placing a mixture of DNA fragments at one end of a porous gel and applying an electrical voltage to the gel
RNA interference (RNAi)
a technique used to silence the expression of selected genes; uses synthetic double-stranded RNA molecules that match the sequence of a particular gene to trigger the breakdown of the gene's mRNA
single nucleotide polymorphisms
a single base-pair in a genome where nucleotide variation is found in at least 1% of the population
and organism whose genome contains a gene introduced from another organism of the same or a different species.
A unit of genetic function common in bacteria and phages, consisting of coordinately regulated clusters of genes with related functions.
In prokaryotic DNA, a sequence of nucleotides near the start of an operon to which an active repressor can attach. The binding of the repressor prevents RNA polymerase from attaching to the promoter and transcribing the genes of the operon.
a protein that inhibits gene transcription. In prokaryotes, these bind to the DNA in or near the promoter. In eukaryotes, these may bind to control elements within enhancers, to activators, or to other proteins in a way that blocks activators from binding to DNA
a gene that codes for a protein, such as a repressor, that controls the transcription of another gene or group of genes
a small molecule that binds to a bacterial repressor protein and changes its shape, allowing it to switch an operon off
This molecule is the corepressor in the trp operon; it binds to the repressor which then binds to the operator
the enzyme reponsible for the breakdown of lactose into its component sugars, glucose and galactose. LacZ codes for this (idk what other definition to use.. help?!)
negative gene regulation
the operons are switched off by the active form of the repressor protein (examples lac operon and trp operon)
positive gene regulation
cAMP & Catabolite Activator Protein (CAP)- activator of transcription (what else can be said about this?!)
This molecule is the corepressor in the trp operon; it binds to the repressor which then binds to the operator
Theory of DNA replication where each new strand is built on an old strand after DNA is unzipped.
A process where DNA fragments are separated according to size using electrical charges