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Genetics_CH1

introductory terms

QuestionAnswer
genetics the study of all aspects of genes (both molecular genetics and genomics)
genes the fundamental units of biological information (virtually all of these are composed of DNA)
molecular genetics studies genes one or few at a time (began after the discovery of DNA)
genomics the study of complete gene sets
genomes complete gene sets
zygote (single cell) fertilized eggs
chromosomes worm-shaped, densely staining bodies found within the nuclei of cells, pass from generation to generation through nuclear divisions called meiosis and mitosis
DNA discovered in the 1950s by James Watson and Francis Crick, contains information written in a genetic code (passed from generation to generation)
gentic code a linear series of four molecular building blocks called nucleotides
double helix backbones made of sugar-phosphate
genome each copy of the identical complementary chromosome that is in a cell's nucleus
chromosome are in pairs and each is one, long DNA molecule
genes functional regions of the DNA
DNA double helix in structure
DNA molecule made up of two long molecular strands of nucleotides wound around each other in a double helix
nucleotides four kinds in DNA, each has a deoxyribose sugar, a phosphate group and a nitrogenous base (sugars and phosphates are identical, but the nitrogenous bases vary)
nitrogenous bases adenine (A), thymine (T), guanine (G), and cytosine (C) (AT CG = pairs)
each strand sugar and phosphate groups form the chain and the bases face the center (hydrogen bonding connects bases)
genome an organism's complete set of genetic information, encoded in its DNA
eukaryotes organisms whose cells have nuclei
individual chromosome just one side of the double helix
diploid the nuclei contain two complete copies of the genome and so two identical chromosome sets (2n)
haploid number the number of chromosomes in the basic genomic set (n)
homologous chromosomes or homologs the two members of a chromosome pair (in a diploid organism)
homologous pairs virtually the same, even though minor variation in the nucleotide sequence is often present
genes segments along one continuous DNA molecule (the basic carrier of information)
exon coding region
intron internal noncoding inserts that are part of the functional coding sequence of genes
5' --> 3' the direction of transcription of genes
gene pair in diploids, the presence of genes (because of homologous chromosomes)
somatic cell that is part of the body
electrophoresis a way to separate DNA molecules by size on a gel (number of DNA bands = haploid number)
nucleosomes molecular spools that the DNA double helix coils around (in order to become extremely tightly packed)
histones eight proteins contained in each nucleosome
scaffold helps organize the 3-D structure of a chromosome
chromatin DNA and associated nucleosomes (together)
centromere a constricted region of a chromosome that acts as an attachment point to move the chromosome during cell division
telomeres the tips of the chromosome (prevent DNA from fraying... like plastic bands on shoelaces)
mitochondria contain a small fraction of the DNA in eukaryotic genomes
chloroplasts contain DNA in plant species
extranuclear genome DNA stored outside the nucleus, such as in chloroplasts or mitochondria
prokaryotes lack nuclei
cytoplasm where the genome resides unbounded in prokaryotic organisms
plasmids small circular chromosomes in prokaryotes (in addition to chromosome)
virus DNA small and usually linear
proteins responsible for the form or physical essence of an organism
structural proteins contribute to outward physical structure such as hair, nails, and muscle and also to structural elements within the cell such as the cytoskeleton
enzymatic proteins catalyze the reactions going on within cells, reactions that make all the main types of molecules, including proteins themselves, nucleic acids, carbohydrates, and fats
regulatory proteins act to turn on or turn off gene activity at the appropriate time and place
main task of the living system convert the information of the DNA of genes into proteins
first stage of protein synthesis: transcription the DNA of a gene is copied to make another linear molecule calle ribonucleic acid (RNA)
RNA composed of nucleotides, but the sugar is ribose and the base uracil replaces the base thymine, single stranded
RNA transcript modified and the introns are removed (in eukaryotes)
messenger RNA (mRNA) the final form of gene transcripts destined for protein synthesis
mRNA transported to the cytoplasm for translation into a polypeptide chain
DNA --> RNA --> protein mRNA translates into proteins
reverse transcription RNA can go back to DNA in order to maintain the telomeres that form the chromosome tips
protein long strand of amino acids called polypeptides (20 amino acids in cells, and various combinations of these 20 give each protein its specific shape and function)
codons groups of three nucleotides that constitute three-letter "words" of the genetic coding language
RNA molecules never translated into protein
ribosomal RNA (rRNA) part of ribosomes
transfer RNA (tRNA) carry amino acids to the translational system
DNA replication two daughter chromosomes are created, both with a new and old strand
gamete sex cell
mutation a change to the DNA sequence
epigenetic nongenetic changes such as certain environmentally induced chemical changes in histones that are self-perpetuating, and alter the gene function which is handed down to descendants
natural selection the process whereby individuals with a particular characteristic may reproduce better than others in a given environment thereby producing more individuals with that particular characteristic (discovered by Charles Darwin and Alfred Russel Wallace)
homology similarity due to shared ancestry from a common ancestor
theory of evolution natural selection produces homology
evolutionary tree a treelike branched diagram that shows the descent of various modern and fossil species through intermediate ancestral forms over time (species with similar DNA are closer on the tree)
model organisms (fruit fly, mice, E. coli, and baker's yeast) living beings that have properties that lend themselves well to an investigation (biological), and living beings that are easy and cheap to maintain and grow quickly (expediency)
transgene a foreign gene that can be introduced into an organism
transgenic organism an organism that has a foreign gene
gene therapy correcting genomes at the DNA level
DNA fingerprint based on the observation that certain regions of the genome are found in multiple adjacent copies (repetitive DNA), & the number of copies at any chromosomal position is highly individualistic-comparison of several-such sites reveals personal fingerprint
eugenics improving the quality of human births
forward genetics treat cells of the normal wildptype form of the organism w/ agents such as X rays or chemicals that causes mutations-screen descendants 4 abnormal manifestation of the function in question-Ask r properties inherited as 1 mutated gene & determine function
forward genetics Mutation --> gene discovery --> DNA sequence and function
reverse genetics starts with a gene sequence (probably learned from a genome sequence) that has no known function and then attempts to find that function
directed mutagenesis experimental approaches that can target mutations to an individual gene
reverse genetics Gene (DNA sequence) --> mutation --> function
DNA manipulation usually focuses on parts of the genome
DNA cloning taking a DNA fragment and replicating it many times over until there are many copies so that essentially it can be treated like a reagent in a test tube
amplifying the process of replicating a DNA sequence
cut DNA sequence use enzymes
vector (carrier) small DNA fragments are inserted into this small self-replicating chromosome
bacterial cells divide with vectors inside them causing the vectors to replicate
probing method of detecting spec. macromolecules in a mixture- uses of the specificity of intermolecular binding (the binding affinity of mRNA 2 the DNA sequence from which it was transcribed)- probe will only bind w/ the sought-for macromolecule & is labeled
probe works because of base complementarity... nucleotide sequence is complementary to its target
probing must be done with separated DNA strands so that the bases are unoccupied
Southern blot DNA is cut using enzymes and then put onto a porous membrain where they travel by size
probe introduced after blotting to bind to specific piece of complementary DNA
microarray postage-stamp-size glass where DNA fragments representing all the genes of a genome are placed
probes - microarray made by converting mRNAs from one tissure (such as cancer) to DNA called cDNA... microarray is bathed in this probe and spots of the label on the glass reveal which genes were being transcribed in the sample tissue
Polymerase Chain Reaction (PCR) using a sequenced region, it is possible to detect homologs of that region in an unknown sample using this method
PCR requires inspection of the genome sequence and picking two short single-stranded DNA segments (primers... initiate DNA replication across a region) that flank the region in question
PCR replication process shuttles back and forth across the region, with each synthesized copy acting as the template for a new round of synthesis (process expands exponentially giving multiple copies of that DNA segment
PCR primers will only work if the target region in question (including the primer sequences) contains a homolog
Northern blot - probing for specific RNA uses mRNA extracted from the tissue, separated into fragments of different sizes using electrophoresis, and blotted onto a membrane (cloned gene is used as a probe, and its label will highlight the mRNA in question if present)
Western blot - probing for a specific protein protein mixture is separated n2 bands of distinct proteins by electrophoresis & then blotted onto membrane- specific protein revealed by bathing the membrane in a solution of antibody obtained from a host into which the antigen was previously injected
antibody a protein made by an animal's immune system; it binds with high affinity to a molecule such as a specific protein (which acts as an antigen)
Created by: Nicolekr
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