Molec Bio Exam 1 – Flashcards
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| Recessive allele |
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| An allele that will only be expressed in the absence of the dominant allele. [uses lower case letter(s)] |
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| Define phenotype |
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| The allele that is being expressed - what is seen. |
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| Define genotype |
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| The alleles you possess for a given trait- three types: Homozygous dominant, Homozygous recessive, and heterozygous |
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| Homozygous Recessive |
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| Having two recessive alleles for a trait |
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| Homozygous Dominant |
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| Having two dominant alleles for a trait |
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| Heterozygous |
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| Having one dominant and one recessive allele for a trait |
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| Law of Segregation (Mendel's 1st principle) |
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| Two alleles of any gene are on homologs that separate from each other in Anaphase of meiosis. Half sex cells get one allele, and the other half get the other. |
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| Law of Independent Assortment (Mendel's 2nd principle) |
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| Homolog arrangement in Metaphase I is random, passing a maternal allele from one homolog does not affect any other homologous pair |
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| Sex Linked Traits |
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| A trait that is only present on the 23rd homologous pair- the X or the Y. If a Y linked trait- will always appear since there is only ever one Y in the 23rd homologous pair (Male=xy, Female= xx) |
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| Autosomal Dominant |
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| Trait is dominant: phenotype appears every generation, affected individual has at least one affected parent, affects both male and female |
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| Autosomal Recessive |
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| Trait is recessive: phenotype can skip a generation, affected individual can have unaffected parents, affects both male and female |
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| Complete Dominance |
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| Punnett Square- Dominant trait is ALWAYS dominant |
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| Incomplete Dominance |
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| Phenotype is a blend of dominant and recessive alleles - pink carnation |
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| Co-dominance |
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| Phenotype is both alleles, but not blended- more blotchy. Is often ENVIRONMENTALLY influenced |
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| Multiple Alleles |
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| A gene that has more than two possible alleles- you can only inherit two, even if there are more than two possibilities |
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| Pleiotropic |
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| One gene controls multiple different traits (opposite of polygenic) |
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| Polygenic |
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| Multiple genes control the same trait (opposite of pleiotropic) |
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| Chromatin |
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| Makes up Chromatids- make up chromosomes: Made of histone protines with strands of DNA wrapped around them twice. |
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| DNA is a polymer made of ____ monomers |
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| Nucleotides |
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| 2 classes of nitrogenous bases |
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| 1. Purines 2. Pyramidines |
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| Purines |
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| Adenine and Guanine |
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| Pyramidines |
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| Cytosine and Thymine |
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| Railing of DNA made of... |
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| Alternating Carbohydrates and phosphates |
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| Carbohydrates in "railing" of DNA is____ bonded to __ |
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| Covalently bonded to "rungs" of nitrogenous bases |
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| Rungs of DNA made of _____, ______ bonded |
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| Two nitrogenous bases, hydrogen-bonded together |
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| Adenine always bonds with _____ (part of Chargoff's Rules) |
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| Thymine |
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| Thymine always bonds with_____(part of Chargoff's Rules) |
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| Adenine |
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| Guanine always bonds with _____(part of Chargoff's Rules) |
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| Cytosine |
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| Cytosine always bonds with _____(part of Chargoff's Rules) |
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| Guanine |
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| Chargoff's Rules say |
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| Which nitrogenous bases will bond together. Purines are always double ringed, while pyramidines are single-ringed. Base pair of 1 purine and 1 pyramidine. (consistent width) [If you have 40% adenine you must have 40% thymine which leaves 20% to other bases- ten each.] |
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| Order of pairs of nitrogenous bases in DNA |
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| Variable- determines an individual's genetic code |
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| Explain Chromosomes: (beads on a string) |
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| Parents physically pass on alleles for genes on chromosomes. Chromosomes are made of chromatin. Chromatin is comprised of nucleosomes. Clumps of histone proteins with strands of DNA wrapped around them twice. |
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| DNA Replication |
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| In the S stage of interphase, enzyme helicase untwists/unzips DNA, therefore, breaking hydrogen bonds. Enzyme DNA polymerase attaches complimentary bases to each half of unzipped DNA and each new DNA strand is exact clone of original. Each chromosome has added a chromatid. (when you want to copy entire cookbook) |
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| The Central Dogma |
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| DNA-->RNA -->Protein-->Phenotype. |
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| A gene |
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| A section of DNA with a code to produce a single protein. |
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| Analogy |
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| Cell's nucleus is a library, chromosomes are cookbooks, genes are the recipes (to make protein), alleles are different versions of the same recipe (to make a protein) |
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| What is so important about the proteins made? |
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| It is the protein you make that gives your phenotype for any gene!!! |
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| Explain Translation |
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| Translation is when proteins are produced. mRNA leaves the nucleus and travels to a ribosome with a list of amino acid ingredients it needs. Translated codon by codon, codon codes for amino acid. But mRNA can't actually grab them, so tRNA comes in to play. tRNA carries an amino acid on one end and an anticodon on the other. |
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| tRNA... |
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| The molecule that transfers AA to mRNA is called the transferRNA. Each molecule carries a specific amino acid. |
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| Anticodon |
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| An anticodon hydrogen bonds only with its mRNA complimentary codon. The codon/anticodon match ensures each mRNA only gets the AA it calls for. 3 bases at the end of tRNA is where the anticodon is- sticks to codon and delivers amino acid. |
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| Translation Continued |
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| mRNA winds its way into a ribosome. A ribosome exposes one codon at a time. One by one, tRNA brings the proper AA to each codon of mRNA. The individual AA are connected through dehydration reactions to form a polypeptide. The polypeptide folds into 3D form and becomes a protein (which actually expresses your gene.) |
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| Promoters |
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| Switches for your genes. If a gene is "on" RNA polymerase transcribes. There are start and stop switches. Two cells with exact same recipes may behave differently because of these promoters that start and stop/turn on and off at different times. |
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| Exons |
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| *to remember: EX (as in EXpressed).* Exons are expressed- actually codes for a protein |
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| Introns |
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| Introns is a section of DNA that does not code for anything. |
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| Where are proteins made in a cell? |
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| Ribosomes! |
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| mRNA |
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| A copy of the DNA's recipe that can travel to ribosomes. The mRNA is made in the process of transcription. mRNA is mobile and leaves the nucleus. mRNA is a small copy of a single gene. It has ribose sugar in its railing. mRNA is single stranded-it lacks base pairs. mRNA replaces thymine with a base called uracil. |
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| Transcription |
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| Helicase unzips the section of DNA with the gene, breaking the hydrogen bonds. Though the strand is double, only one side of dna is important. An enzyme called RNA polymerase travels around the strand- taking free nucleoiteds (A to A etc.) and matching them up with complement. It does this until it reaches stop codon and mRNA is released, leaves nucleus and goes into cytosol. |
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| Helicase |
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| Helicase untwists or unzips only the section of DNA that has the needed gene (recipe). |
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| Watson and Crick |
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| Published short paper (groundbreaking). Walked around and picked up pieces of the puzzle (about DNA) and put it together as a model. They |
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| DNA Structure |
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| Is a polymer. DNA is a double stranded helix comprised of paired nucleotide monomers. Railings are for support. Rungs made of two nitrogenous bases hydrogen-bonded together |
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| Rosalind Franklin's discoveries |
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| Rosalind's images demonstrated a molecule with 2 strands twisted around each other and pairs of nucleotides stacked along the middle. |
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| Nucleotides consist of (3 parts) |
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| A phosphate group, a deoxyribose sugar, nitrogenous base |
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| How many nucleotides does each cell in your body, need? |
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| 6 billion |
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| Monohybrid Cross |
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| When you are crossing one gene. |
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| Dyhybrid Cross |
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| When you are crossing two genes. Four possibilities: sixteen box punett square |
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| In sex cells, how many alleles do you pass on for each gene? |
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| In each sex cell you only pass on one allele for each gene. |
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| Protein Synthesis |
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| DNA to RNA to protein. DNA cannot leave the nucleus so we make a copy of the recipe that can travel- called mRNA (made in transcription). |
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| When is DNA replication is used? |
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| In meiosis and mitosis |
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| How many strands of chromatin are there in a human sperm cell? |
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| 23 |
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| What is NOT a part of the nucleotide monomers that comprise DNA? |
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| Protein |
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| If you are heterozygous for a trait, what are the odds of passing the recessive allele to your kids? |
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| 50.00000% |
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| Codons |
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| Three bases in a row. Each is a code for a single ingredient in building a protein-amino acid. Possible 64 codons on a codon chart. |
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| Archibald Garrod |
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| In 1902, described the first (recessive) human Mendelian genetic disorder, alkaptonuria. Disease caused by a lack of an enzyme, homogenistic acid oxidase |
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| Dominant trait |
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| The trait that appears in the F1 progeny |
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| Recessive trait |
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| The trait that does not appear in F1 progeny |
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| Phenotype |
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| The appearance or physical structures of an individual. |
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| Genotype |
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| The genetic composition of an individual. |
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| Homozygous |
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| A gene pair in which both the maternal and paternal gnes are identical (e.g. RR or rr). |
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| Heterozygous |
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| A gene pair in which the paternal and maternal genes are different (e.g. Rr) |
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| Gene |
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| the basic unit capable of transmitting characteristics from one generation to the next. It consists of a specific sequence of DNA or RNA that occupies a fixed position locus on a chromosome. |
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| Allele |
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| one of two or more alternative forms of a gene, occupying the same position locus on paired chromosomes and controlling the same inherited characteristic |
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| Mendel's First Law (The principle of independent segregation) |
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| Genes occur in pairs and at the time of gamete formation, one of each pair enters the gametes. Inferred from F1 x F1 crosses. |
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| Mendel's Second Law (The principle of independent assortment) |
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| One gene pair segregates (sorts) independent of another gene pair. |
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| Walter Flemming |
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| Described mitosis in 1879 |
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| Meiosis vs Mitosis |
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| Mitosis Metaphase 1: line up linearly; one chromatid from each chromosome in daughter cells Meiosis Metaphase 1: line up pairs and duplicated chromosomes separate; then 2nd mitotic-like cell division |
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| Alkaptonuria |
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| Defective homogenistic acid oxidase enzyme which is responsible for tyrosine degradation. Leads to build up in blood and excess in urine, can result in kidney stones. It was the first recessive Mendelian genetic disorder found in humans. |
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| How is genetics about phenotype? |
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| Mendel could only infer genotype by observation of phenotypic properties of progeny. |
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| F2 Phenotypic Ratio |
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| 9:3:3:1 |
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| 3 Scientists who independently confirmed Mendel's Work |
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| Hugo DeVries, Karl Correns, and Erich von Tschermak |
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| Walter Sutton |
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| 1902-He came up with the chromosome theory of inheritance (genes are carried from parents to their offspring on chromosomes). He observed that segregation of chromosomes during meiosis matched segregation of Mendel's traits or factors. |
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| Beadle and Tatum |
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| Their work on Neurospora led credence to the hypothesis that genes coded for enzymes. The thought at the time was that genes were composed of amino acids and that " one gene one enzyme". |
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| Fredrick Griffith |
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| showed that DNA can carry genetic specificity with his work on virulent and nonvirulant strains of streptococcus pneumoniae. Heating cells up until they died showed that genetic components not only remain intact, but are able to transfer to nonvirulant strains and undergo genetic recombination. |
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| Oswald Avery |
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| Avery isolated DNA, showing that if it was added to R (rough nonvirulent) cells they would turn to S (smooth virulent) cells. The transforming ability of these fractions were stopped if deoxyribonuclease was added, while if ribonuclease or protease there was no difference in the fractions transforming ability. |
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| Hershey and Chase |
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| Their work with radioactive phages (radioactive S in protein coat and P in DNA) confirmed that nucleic acids were the actual component of DNA. |
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| William Astbury |
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| 1938-Took the first x-ray diffraction of DNA. |
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| Williams and Franklin |
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| 1950s-High quality x-ray diffractions showed that DNA was a helical structure and composed of more than one polynucleotide chain. |
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| Alexander Todd |
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| Showed that DNA was held together by 3' to 5' phosphodiester bonds. |
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| Linus Pauling |
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| Showed that alpha helices of polypeptide chains provided the models for DNA structure. |
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| Crick and Watson |
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| 1953-Showed the complementary nature of DNA. |
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| Vernon Ingram |
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| 1956-Showed that sickle hemoglobin differs from normal hemoglobin by the change of one amino acid in the beta chain |
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| What causes sickle cell anemia? |
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| At position 6, glutamic acid residue found in wild-type hemoglobin is replaced by valine on the S allele of the beta globin gene |
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| Meselson ; Stahl |
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| Showed that DNA replication is a semiconservative process in which the single strands of the double helix remain intact (conserved) during a replication process where one parental strand seperates into two daughter molecules, one original, and one new (semi). |
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| Meselson ; Stahl Experiment |
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| Used CsCl density gradient centrifugation in which the sedimentation forms bands. The density gradient seperated by heavy (bottom), hybrid (middle), light (top) |
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| What distinguishes RNA from DNA? |
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| 1) RNA contains ribose, which is identical to deoxyribose except for the presence of an additional OH (hydroxyl) group on the 2' carbon 2) RNA has no thymine but has the closely related pyrimidine uracil (has no methyl group CH3) |
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| Torbjorn Caspersson & Jean Brachet |
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| Found that RNA is in same cellular compartment (cytoplasm) where protein synthesis occurs |
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| Adapter Hypothesis of Crick |
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| Crick proposed that prior to incorporation into proteins, amino acids are first attached to specific adapter molecules, which possess unique surfaces that can bind specifically to bases on the RNA templates |
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| Paul Zamecnik (early years) |
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| 1953-developed cell free extracts for protein synthesis by using radioactive tagged amino acids to trace newly made proteins and then ultracentrifuged them for fractioning. |
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| Paul Zamecnik & Mahlon Hoagland |
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| Discovered that prior to incorporation into proteins, amino acids are first attached to transfer RNA (tRNA) |
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| Arthur Kornberg |
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| Showed that a specific polymerizing enzyme is needed to catalyze the linking of building-block precursors of DNA Ultimately isolated DNA polymerase I, the enzyme used to replicate DNA |
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| DNA Polymerase I |
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| Catalyzes the synthesis of new DNA strands Removes the primers (RNA nucleotides) from 5' end and replaces them with DNA nucleotides Requires DNA template to determine sequence of the DNA strand that it is synthesizing |
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| What evidence suggests that DNA cannot be the template that directly orders amino acids? |
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| Protein synthesis occurs at sites where DNA is absent a second information containing molecule is needed that obtains its genetic specificity from DNA |
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| Transfer RNA (tRNA) |
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| A type of RNA that carries an amino acid from the cytoplasm to the ribosome for incorporation into a growing protein |
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| Ribosomal RNA (rRNA) |
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| The most abundant type of RNA (85%) Composed of two unequally sized units, that stick together or fall apart depending on ion concentration Brings the tRNA-amino acid precursors into position where they can read of information provided by mRNA templates |
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| Messenger RNA (mRNA) |
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| type of RNA that carries instructions from DNA in the nucleus to the ribosomal sites of Protein synthesis can be read by several ribosomes |
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| Polyribosomes |
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| A group of ribosomes translating the same mRNA |
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| Why was mRNA overlooked? |
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| Because only a small percent of total cellular RNA is mRNA |
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| Transcription |
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| RNA synthesis Process by which a DNA template is used to produce a single-stranded RNA molecule |
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| Translation |
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| Protein synthesis genetic information coded in messenger RNA directs formation of specific Protein at ribosome in cytoplasm Starts and stops at internal positions |
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| Jerard Hurwitz ; Samuel Weiss |
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| Isolated the first RNA polymerase |
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| RNA polymerase |
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| An enzyme that pulls the 2 strands of DNA apart and hooks together the RNA nucleotides as they base pair along the DNA template |
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| Which experiment confirmed movement of mRNA from nucleus to ribosome-containing cytoplasm? |
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| Pulse labeling experiment |
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| Pulse Labeling Experiment |
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| Briefly exposed cells to radiolabeled precursors, adding large excess of unlabeled nucleotides in which mRNA synthesized in short window of time Study Showed that mRNA is synthesized in nucleus Led to conclusion that direction of Protein synthesis from AA teminus to carboxyl terminus (new aa added to C terminus of growing poly chain) |
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| Charles Yanofsky ; Sidney Brenner |
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| 1960 - Conducted a mutational analysis on bacterial proteins that showed colinearity exists |
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| Colinearity |
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| Concept that a gene's DNA codon sequence is the same as the protein's amino acid sequence along a given polypeptide chain |
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| Brenner ; Crick |
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| 1961 - First to establish that groups of three nucleotides are used to specify (code) individual amino acids |
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| Marshall Nirenberg ; Heinrich Matthaei |
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| 1961 - addition of synthetic polynucleotide poly U (UUUU...) to cell-free system capable of making proteins lead to synth of polypeptide chains w/ only AA phenylalanine |
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| Har Gobind Khorana |
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| Used polynucleotides like AGUAGU to complete the genetic code |
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| Completion of the Genetic Code revealed... |
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| 1966 - Revealed that 61 out of 64 possible groups correspond to amino acids, with most amino acids being encoded by more than one nucleotide triplet. |
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| Central Dogma |
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| DNA --> A: Transcription --> RNA --> B: Translation --> Protein |
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| Synthetic Polynucleotides |
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| Poly U = Phenyl Alanine Poly A = Lysine Poly C = Proline |
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| Nonsense codons |
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| Three codons that do not direct the addition of a particular amino acid but instead serve as translational stop signals (aka stop codon) UAA, UAG, UGA |
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| start codon |
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| AUG codon (methionine) in eukaryotes AUG or GCG in prokaryotes signals ribosomes to begin translation Codes for the first amino acid in polypeptide chain |
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| How does initiator AUG distinguish from an internal codon? Pro vs. Euk |
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| prokaryotes - AUG codons start new polypeptide chains, preceded by specific purine-rich blocks of nucleotides - serve to attach mRNA to ribosomes eukaryotes - position of AUG relative to beginning of mRNA is critical determinant, w/ first AUG always selected as start site of translation |
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| Comparative Genomics |
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| Identification of conserved and non-conserved DNA sequences between species, compare new genome sequence to previously sequenced genomes Potential to identify mutations that lead to disease |
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| what is a gene? |
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| discrete units of inheritance (segments of DNA) |
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| what does a gene consist of? |
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| specific sequence of nucleotides in DNA |
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| what is a chromosome? |
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| a single piece of coiled DNA containing many genes |
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| what is DNA? |
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| a double strand polymer of nucleotides |
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| 3 main structures of DNA |
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| phosphate 5 carbon sugar (deyoxribose) nitrogen base |
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| what are the 4 different nitrogen bases of DNA? |
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| Adenine Guanine Thymine Cytosine |
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| Of the 4 nitrogen bases of DNA, which 2 are double ringed purines? |
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| Adenine and Guanine |
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| of the 4 nitrogen bases of DNA, which 2 are single ringed pyrimidines |
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| thymine and cytosine |
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| the phosphate and 5 carbon sugar combine to form what? |
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| phosphate-sugar complex |
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| how are phosphate-sugar complexes bonded together? |
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| covalent bonds |
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| how are the nitrogen bases bonded to the phosphate-sugar complexes? |
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| covalent bonds |
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| How are the double strands of DNA bonded together? |
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| hydrogen bonds via the nitrogen bases |
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| In DNA what nitrogen base always pairs with Adenine? |
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| Thymine |
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| In DNA what nitrogen base always pairs with Cytosine? |
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| Guanine |
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| In DNA what is the name for three successive bases on a DNA strand? |
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| triplet |
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| Where does DNA replication take place? |
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| in the nucleus |
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| Why does DNA replicate? |
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| - to ensure continuity of hereditary traits |
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| What is semi-conservative DNA replication? |
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| - conserves some of the old strand with the new strand |
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| Where does DNA unwind? |
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| origin of replication |
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| What 2 enzymes cause the DNA to separate? |
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| helicase DNA nuclease |
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| How do helicase and DNA nuclease separate the DNA strands? |
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| they break the hydrogen bonds |
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| In DNA replication what is the exposed strand called? |
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| template strand |
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| In DNA replication what enzyme joins the new nucleotides to the template strand? |
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| DNA polymerase |
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| In DNA replication what is formed when the new nucleotides join with the template strand? |
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| complimentary strand |
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| What enzyme connects the new segments of DNA? |
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| Ligase |
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| What is RNA |
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| single strand polymer of nucleotides |
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| What are the 3 structures of RNA? |
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| phosphate 5 carbon sugar (ribose) nitrogen base |
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| What are the 4 possible nitrogen bases for RNA? |
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| Adenine Cytosine Guanine Uracil |
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| What are the 3 differences between DNA and RNA? |
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| different sugars DNA double strand/RNA single strand DNA = thymine / RNA = uracil |
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| What are the 3 types of RNA involved in protein synthesis? |
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| messenger RNA (mRNA) transfer RNA (tRNA) ribosomal RNA (rRNA) |
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| what is the function of mRNA? |
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| carries code from DNA to ribosomes |
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| what is the function of tRNA? |
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| carries amino acids to mRNA at ribosomes |
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| what is the function of rRNA? |
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| responsible for peptide bond |
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| What is the name for 3 successive bases on mRNA |
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| codon |
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| What is the name for 3 successive bases on tRNA |
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| anticodon |
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| What happens in RNA transcription? |
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| DNA information into a molecule of RNA |
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| What happens in RNA translation? |
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| RNA to protein (or polypeptite chain) |
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| Where does RNA translation occur? |
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| in the cytoplasm/ribosome |
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| Where does the RNA strand go after transcription? |
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| out into the cytoplasm |
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| What are the 3 main steps of RNA translation? |
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| initiation polypeptide formation (elongation) termination |
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| In the initiation of RNA translation, what does mRNA attach to? |
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| ribosomal subunit |
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| in the initiation of RNA translation, what does tRNA attach to? |
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| codon of mRNA |
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| In RNA elongation, a polypeptide bond is formed between what? |
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| two amino acids |
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| What causes the termination of RNA translation? |
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| stop codon |
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| What do ribosomes use to translate bases into amino acids? |
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| use tRNA to attach to mRNA |
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| What is a DNA mutation? |
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| a heritable change in the DNA |
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| what does heritable mean (in terms of DNA mutations)? |
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| it can move from one line (generation) of cells to the next line of cells |
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| What are 3 common causes of DNA mutations? |
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| radiation viruses mutagenic chemicals |
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| T or F The information from mutated DNA is NOT likely to be passed on to RNA |
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| 0 |
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| what are the 2 major types of DNA mutation? |
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| point mutations frameshift mutations |
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| what is a point mutation? |
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| a substitution of a base |
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| what is a frameshift mutation? |
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| a deletion or insertion of a base |
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| what is a silent mutation? |
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| when a change would not affect the amino acid produced |
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