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dr dhameja

dr dhameja

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School: University of South Carolina
Department: Biology
Course: General Biology
Professor: Milan dhameja
Term: Fall 2016
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Cost: 50
Name: Study Guide for Exam #4 Biology 101 (Dr. Dhameja)
Description: This is the study guide for Exam #4 which will take place on November 22. The chapters that will be covered on this exam are part of chapter 14 through the first part of chapter 18. The answers to the study guide have been posted with this document as well.
Uploaded: 11/19/2016
14 Pages 264 Views 6 Unlocks
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What are the symptoms of cystic fibrosis and sickle-cell disease?




What is the norm of reaction?




What is the difference between nature and nurture?



Dr. Dhameja – Biology 101  Study Guide Answers for Exam #4: Chapter 14 -18  Chapter 14 (part 2) – Mendel and the Gene Idea  What is the difference between nature and nurture? What is the norm of reaction?  Nature refers to the genome that is passed down from parent to offspring, specifically referring to  heredity anIf you want to learn more check out nutrition exam 3
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d nurture refers to the affect that the environment has on an offspring.  Norm of reaction - the phenotypic range of a genotype that was influenced by the environment  The norm of reaction is generally broadest for POLYGENIC CHARACTERS.  The characters that are influences by both genetic and environmental factors are referred  to as MULTIFACTORIAL CHARACTER.  Name three reasons why humans would not be good subjects for genetic research:  1. LONG GENERATION TIMES (PEOPLE CAN LIVE TO BE 100) 2. LOW NUMBERS OF OFFSPRING  3. BREEDING OF HUMANS IS CONSIDERED TO BE UNACCEPTABLE Individuals, who are heterozygous for a specific disorder, that do not express that disorder  phenotypically are considered to be CARRIERS of that disorder.  What are the symptoms of cystic fibrosis and sickle-cell disease? What causes these  disorders?  Cystic fibrosis – Causes: defective or absent chloride transport channel in the plasma membranes Symptoms: mucus buildup in internal organs Sickle-cell disease – Causes: substitution of a single amino acid in the hemoglobin protein in red blood cells Symptoms: low oxygen content, cells may clump and clog blood vessels Name two of the four fetal tests that are used today:  1. AMNIOCENTESIS 2. CHORIONIC VILLUS SAMPLING (CVS) 3. ULTRASOUND 4. FETOSCOPY ∙ Can you name the other two? Do you know the most common of the four?  Ultrasound is the most common of the four fetal tests used today, ultrasounds are  commonly used in every appointment a patient has. Chapter 15 – The Chromosomal Basis of Inheritance  Mendel’s “heredity factors” are now known as GENES and their specific location can be  tagged using FLUORSCENT DYE.  What are the two parts of the chromosome theory of inheritance? Define the Law of  Segregation and the Law of Independent Assortment? Who came up with these laws?  1. Mendelian genes have specific loci on chromosomes  a. Loci/locus – location of a gene on a chromosome  2. Chromosomes undergo segregation and independent assortment  a. Law of Segregation – the two alleles in a pair segregate (separate from each other)  into different gametes during gamete formation (Mendel’s first law)  b. Law of Independent Assortment – each pair of alleles segregates, or assorts,  independently of each other pair during gamete formation (Mendel’s second law)  Who is Thomas Hunt Morgan and why is he important?  Thomas Hunt Morgan was an embryologist, discovered the first solid evidence relating a specific  gene with a specific chromosome. Morgan conducted a series of experiments on Drosophila  melanogaster and discovered the recessive and dominance of specific genes.  The X sex chromosome is larger than the Y sex chromosome; females have the two sex  chromosomes XX and males have the two sex chromosomes XY.  The SRY gene located on the X sex chromosome, codes for the development of the testes.  What is a sex-linked gene? Which chromosome is a sex-linked disorder most commonly  found on? Who is more common to develop a sex-linked disorder, females or males?  Sex-linked gene are genes located on either of (X or Y) the sex chromosomes. Sex-linked  disorders are most commonly found of the X chromosome, which means that males are more  likely to express a sex-linked disorder because they would only need one copy of the gene while  females would need two.  A female, heterozygous for a particular gene located on the X-chromosome, WILL NOT  express that trait.  What is a linked gene? What two genes were linked in the experiment Thomas Hunt  Morgan conducted?  Linked gene are genes located on the same chromosome that tend to be inherited together. In  Morgan’s experiment on Drosophila he found that the specific genes for body color and the wing  size were inherited together. The production of offspring with combination of phenotypes differing from those of either  parent occurs as a product of GENETIC RECOMBINATION. What is nondisjunction? What is aneuploidy?  Nondisjunction – pairs of homologous chromosomes do not separate normally during meiosis  Results ???? one gamete receives two of the same type of chromosome and the other  receives no copy  Aneuploidy – the fertilization of gametes in which nondisjunction occurred  ∙ Abnormal number of chromosome  What are the four types of changes in chromosome structure that can result from the  breakage of a chromosome? What happens during each of these processes?  1. Deletion – removal of a chromosome segment  2. Duplication – repeats a segment  3. Inversion – reversal of a segment  4. Translocation – moving a segment from one chromosome to another  What causes these syndromes:  1. Down syndrome – an aneuploidy condition, results from three copies of chromosome 21 2. Klinefelter syndrome – the result of an extra chromosome in a male (XXY)  3. Turner syndrome – females with only one X chromosome, who are sterile (X0) A variation in phenotype that depends on which parent passed along the specific allele is a  result of GENOMIC IMPRINTING.  What are extranuclear genes? Name two organelles that carry small amounts of DNA.  Extranuclear genes are genes found in organelles in the cytoplasm, they are also referred to as  cytoplasmic genes. Both the mitochondria and the chloroplast have been found to carry small  amounts of DNA.  Chapter 16 – The Molecular Basis of Inheritance  What did Edwin Chargoff report? What is Chargoff’s Rule?  Edwin Chargaff – (1950) reported that DNA composition varies from one species to the next  ∙ This theory made DNA a better candidate for the carrier of genetic material  Chargaff’s Rule – states that in any species there is an equal number of A and T bases, and an  equal number of G and C bases  The two strands of DNA are COMPLEMENTARY and ANTIPARALLEL. What is replication? What are the base-pairing rules? What was the semi-conservative  model of replication?  Replication – the parent molecule unwinds, and two new daughter strands are build based on  base-pairing rules Base-pairing rules – A matches up with T and G matches up with C  Watson and Crick’s Semi-Conservative Model of Replication – predicts that when a double helix  replicates, each daughter molecule will have one original strand and one new strand. The replication of DNA is remarkable in two aspects, SPEED and ACCURACY.  The sites where replication begins are referred to as ORIGINS OF REPLICATION and  replication can proceed in EITHER direction from this site.  The Y-shape region where new DNA strands are elongation is referred to as the  REPLICATION FORKS.  HELICASES unzips the double helix of DNA at the REPLICATION FORKS.  What is a single-strand binding protein? What is a topoisomerase? What is a DNA  polymerase and what are its jobs?  Single-strand binding protein – binds and stabilizes the single-stranded DNA until it can be used  as a template.  Topoisomerase – corrects “over-winding” ahead of the replication forks by breaking, swiveling,  and rejoining DNA strands.  DNA polymerases – enzymes that catalyze the elongation of new DNA at the replication forks  ∙ Requires a primer and a DNA template  ∙ Adds nucleotides to the 3’ end of DNA but are unable to initiate synthesis of a  polynucleotide  ∙ The initial nucleotide is a short RNA primer  o Primers cannot be recognized by DNA polymerase because they contain uracil, so  eventually they have to be removed  The enzyme, PRIMASE, can start a RNA strand from scratch and adds RNA nucleotides  one at a time using the PARENTAL DNA STRAND as a template.  PRIMER, is a short RNA strand that when added to the 3’ end of DNA, serves as a starting  point for a new DNA STRAND to form.  Which has a faster rate of elongation, bacteria or human cells?  When two strands are oriented in different direction of one another, this is referred to as  ANTIPARALLEL structure, and this structure affects REPLICATION in DNA.  DNA POLYMERASE can only copy DNA in the direction of 5’ ???? 3’ and in the direction of  3’ ???? 5’ it requires more help to make a copy.  What is the difference between a leading and lagging strand? What is an Okazaki  fragment? What is the job of DNA ligase? Leading strand – the strand of DNA that DNA polymerase synthesizes in the direction of the  replication fork (5’ ???? 3’) Lagging strand – the strand of DNA that DNA polymerase must work in the opposite direction of  the replication fork (3’ ???? 5’)  ∙ Replication fork – at the end of each replication “bubble” there is a Y-shaped region  where new DNA strands are elongating. DNA ligase – a linking enzyme essential for DNA replication; catalyzes the covalent bonding of  the 3’ end of one DNA fragment to the 5’ end of another DNA fragment What is the difference between mismatch repair and nucleotide excision repair?  Mismatch repair – repair enzymes correct error in base pairing  ∙ Example – A paired with C, so the enzyme will remove the C base and replace it with a T  base Nucleotide Excision Repair – a nuclease cuts out and replaces damaged stretches of DNA  ∙ Example – the strand AAGCT was incorrectly paired with the strand CCATG (when is  should have been paired with TTCGA) so nuclease will cut out the strand CCATG and  replace it with TTCGA Name the two difference between bacterial chromosomes and eukaryotic chromosomes. Bacterial chromosomes are circular and associated with a small amount of protein while  eukaryotic chromosomes are linear and associated with a large amount of protein The protein, HISTONES, are responsible for the first level of DNA packaging in  CHROMATIN.  Chapter 17 – Gene Expression: From Gene to Protein  GENE EXPRESSION is the process by which DNA directs protein synthesis, this involves  two stages, TRANSCRIPTION and TRANSLATION.  What is the central dogma?  DNA ???? RNA ???? PROTEIN The synthesis of RNA under the direction of DNA is referred to as TRANSCRIPTION and  the synthesis of a polypeptide under the direction of mRNA is TRANSLATION.  Define mRNA, RNA processing and primary transcript.  mRNA – processed to produce protein  RNA processing – only occurs in eukaryotic cells; transcripts are modified to yield finished  mRNA Primary transcript – the initial RNA transcript from any geneThere are 20 amino acids that can be built from 4 nucleotide bases in DNA.  What is the triplet code and how does it relate to a codon?  There are 64 codons total, which make up the 61 amino acids and the 4 stop triplets. Explain and give an example of the Wobble hypothesis. Wobble hypothesis – the fact that the in some cases the third nucleotide base has no effect on  which amino acid is produced  ∙ UUU and UUC code for the same amino acid  There are three stop codons:  1. UAA 2. UAG 3. UGA There is one start codon: 1. AUG What is a reading frame?  Reading frame – the correct grouping of codons that must occur in order for the specified  polypeptide to be produced.  RNA POLYMERASE is an enzyme that catalyzes RNA synthesis. What does this enzyme do  specifically?  RNA polymerase is an enzyme that catalyzes RNA synthesis; pries the DNA strand apart and  hooks together the RNA nucleotide. Define promoter, terminator and transcript unit.  Promoter – a specific nucleotide sequence in the DNA of a gene that binds RNA polymerase,  positioning it to start transcribing RNA Terminator – the specific nucleotide sequence that signals the end of transcription  Transcription unit – the stretch of DNA that is transcribed When looking at a strand of DNA, transcription will begin where the nucleotide code  TATA can be found, this code if referred to as the TATA BOX.What are the roles of transcription factors and transcription initiation complexes? Transcription factors – mediate the binding of RNA polymerase II and the initiation of  transcription Transcription initiation complex – the completed assembly of transcription factors and RNA  polymerase II bound to a promoter Mechanisms of termination DIFFERENT between eukaryotes and bacteria; in BACTERIA the polymerase will stop transcription after the TERMINATOR and in EUKARYOTES the  polymerase will continue transcription and eventually FALLS OFF OF the DNA.  What is RNA processing? Does is happen in all cells?  1. Both ends of the primary transcript (pre-mRNA) are altered in a specific way depending  on which end it is:  a. The 5’ end receives a modified 5’ cap  b. The 3’ end receives a poly-A-tail ∙ Function of this process ???? facilitate export of mRNA, protect mRNA from hydrolytic  enzymes, help ribosomes attach to the 5’end 2. Interior parts are either cut out or spliced together  RNA processing does not occur in all cells eukaryotic cells.  What is the difference between introns and exons? What is RNA splicing?  Introns – noncoding RNA (aka intervening sequences)  Exons – coding RNA; eventually expressed and usually translated into amino acids  RNA splicing – removes introns and joins exons to create an mRNA molecule with a continuous  coding sequence. TRANSFER RNA (tRNA) translates a mRNA message into protein.  Transfer RNA (tRNAs) are not identical because on one end the carry AMINO ACID and  on the other end they carry ANTICODON that base pairs with a complementary CODON  on mRNA.  What are the three stages of translation and what happens during these stages?  1. Initiation – brings together mRNA, a tRNA with the first amino acid, and the two  ribosomal subunits. Begins at AUG  2. Elongation – amino acids are added one by one to the preceding amino acid 3. Termination – occurs when a stop codon in the mRNA reaches the ribosome What are point mutations? When can they occur? What are the types of point mutations?  Point mutations – chemical changes in just one base pair of a gene  ∙ Can occur during: o Replication o Recombination o Repair Types of Point Mutations:  1. Base-pair substitution 2. Base-pair insertion or deletion  There are 3 different kinds of base-pair substitution. What are they and what happens  when they occur?  Silent mutation – no effect on amino acid produced by codon due to redundancy  ∙ Wobble hypothesis Missense mutation – still code for an amino acid but not necessarily the right one ∙ GCU replaces with GUU;  o GCU ???? ala  o GUU ???? val  Nonsense mutation – changes codon into a stop codon, producing a nonfunctional protein What is a frameshift mutation? What kind of point mutation is this?  Frameshift mutation – shift in amino acid readings due to the loss or addition of a base pair  Frameshift mutation is a type of base-pair insertions or deletions. Chapter 18 – Regulation of Gene Expression  A regulatory “switch” can be turned on or off to control a cluster of functionally related  genes, this “switch” is a segment of DNA call an OPERATOR.  The entire stretch of DNA that includes the OPERATOR, the PROMOTER and the GENES that they control, is referred to as OPERON.  A REPRESSOR prevents gene transcription by binding to a(n) OPERATOR and blocking  RNA POLYMERASE. Tryptophan binds to the TRP REPRESSOR protein, which turns off the OPERON. A molecule that cooperates with a REPRESSOR to switch the operon off is called a  COREPRESSOR.  In Eukaryotic Gene Expression there are three types, name them and what happens as a  result of them:  1. Histone Acetylation ???? loosens chromatin; upregulates transcription 2. DNA Methylation ???? condenses DNA; downregulates transcription  3. DNA Phosphorylation ???? loosens chromatin; upregulates transcription Dr. Dhameja – Biology 101  Study Guide for Exam #4: Chapter 14 -18  Chapter 14 (part 2) – Mendel and the Gene Idea  What is the difference between nature and nurture? What is the norm of reaction?  The norm of reaction is generally broadest for ________________________.  The characters that are influences by both genetic and environmental factors are referred to as  _______________________________________.  Name three reasons why humans would not be good subjects for genetic research:  1. ________________ 2. ________________ 3. ________________ Individuals, who are heterozygous for a specific disorder, that do not express that disorder  phenotypically are considered to be _______________ of that disorder.  What are the symptoms of cystic fibrosis and sickle-cell disease? What causes these disorders?  Name two of the four fetal tests that are used today:  1. ________________ 2. ________________ ∙ Can you name the other two? Do you know the most common of the four?  Chapter 15 – The Chromosomal Basis of Inheritance  Mendel’s “heredity factors” are now known as ___________________ and their specific  location can be tagged using ___________________.  What are the two parts of the chromosome theory of inheritance? Define the Law of Segregation  and the Law of Independent Assortment? Who came up with these laws?  Who is Thomas Morgan Hunt and why is he important?  The __ sex chromosome is larger than the __ sex chromosome; females have the two sex  chromosomes ___ and males have the two sex chromosomes ___.  The _____ gene located on the __ sex chromosome, codes for the development of the testes. What is a sex-linked gene? Which chromosome is a sex-linked gene most commonly found on?  Who is more common to develop a sex-linked disorder, females or males?  A female, heterozygous for a particular gene located on the X-chromosome, _______________  express that trait.  What is a linked gene? What two genes were linked in the experiment Thomas Hunt Morgan  conducted?  The production of offspring with combination of phenotypes differing from those of either parent  occurs as a product of ___________________________.  What is nondisjunction? What is aneuploidy?  What are the four types of changes in chromosome structure that can result from the breakage of  a chromosome? What happens during each of these processes?  1. ________________________________ 2. ________________________________ 3. ________________________________ 4. ________________________________ What causes these syndromes:  1. Down syndrome – 2. Klinefelter syndrome – 3. Turner syndrome – A variation in phenotype that depends on which parent passed along the specific allele is a result  of ______________________________.  What are extranuclear genes? Name two organelles that carry small amounts of DNA.  Chapter 16 – The Molecular Basis of Inheritance  What did Edwin Chargoff report? What is Chargoff’s Rule?  The two strands of DNA are _________________ and ___________________.  What is replication? What are the base-pairing rules? What was the semi-conservative model of  replication?  The replication of DNA is remarkable in two aspects, ______________ and ______________.  The sites where replication begins are referred to as _______________________ and replication  can proceed in _________________ direction from this site. The Y-shape region where new DNA strands are elongation is referred to as the  __________________________________.  _____________ unzips the double helix of DNA at the _______________________________.  What is a single-strand binding protein? What is a topoisomerase? What is a DNA polymerase  and what are its jobs?  The enzyme, ___________________, can start a RNA strand from scratch and adds RNA  nucleotides one at a time using the _________________________________ as a template.  _______________, is a short RNA strand that when added to the 3’ end of DNA, serves as a  starting point for a new _______________ to form.  Which has a faster rate of elongation, bacteria or human cells?  When two strands are oriented in different direction of one another, this is referred to  as______________________ structure, and this structure affects ________________ in DNA.  _____________ can only copy DNA in the direction of ____________ and in the direction of  ___________ it requires more help to make a copy.  What is the difference between a leading and lagging strand? What is an Okazaki fragment?  What is the job of DNA ligase?  What is the difference between mismatch repair and nucleotide excision repair?  Name the two difference between bacterial chromosomes and eukaryotic chromosomes. The protein, ____________, are responsible for the first level of DNA packaging in  _________________.  Chapter 17 – Gene Expression: From Gene to Protein  __________________ is the process by which DNA directs protein synthesis, this involves two  stages, __________________ and ________________.  What is the central dogma?  The synthesis of RNA under the direction of DNA is referred to as _______________ and the  synthesis of a polypeptide under the direction of mRNA is ___________________.  Define mRNA, RNA processing and primary transcript.  There are ______ amino acids that can be built from ______ nucleotide bases in DNA. What is the triplet code and how does it relate to a codon?  There are ______ codons total, which make up the ______ amino acids and the ____ stop  triplets. Explain and give an example of the Wobble hypothesis. There are three stop codons:  1. __________ 2. __________ 3. __________ There is one start codon: 1. __________ What is a reading frame?  ________________________ is an enzyme that catalyzes RNA synthesis. What does this  enzyme do specifically?  Define promoter, terminator and transcript unit.  When looking at a strand of DNA, transcription will begin where the nucleotide code _______  can be found, this code if referred to as the ________________.  What are the roles of transcription factors and transcription initiation complexes? Mechanisms of termination ________________ between eukaryotes and bacteria; in  __________ the polymerase will stop transcription after the _____________ and in  _______________ the polymerase will continue transcription and eventually _____________ the  DNA.  What is RNA processing? Does is happen in all cells?  What is the difference between introns and exons? What is RNA splicing?  _______________________ translates a ____________ message into protein.  Transfer RNA (tRNAs) are not identical because on one end the carry _____________ and on  the other end they carry ______________ that base pairs with a complementary __________ on  mRNA.  What are the three stages of translation and what happens during these stages?  1. ______________________ 2. ______________________ 3. ______________________What are point mutations? When can they occur? What are the types of point mutations?  There are _________ different kinds of base-pair substitution. What are they and what happens  when they occur?  What is a frameshift mutation? What kind of point mutation is this?  Chapter 18 – Regulation of Gene Expression  A regulatory “switch” can be turned on or off to control a cluster of functionally related genes,  this “switch” is a segment of _______ call an _____________.  The entire stretch of DNA that includes the ______________, the ______________ and the  __________ that they control, is referred to as _________________.  A ____________________ prevents gene transcription by binding to a(n) ______________ and  blocking __________________. Tryptophan binds to the ___________________ protein, which turns off the _______________. A molecule that cooperates with a ______________ to switch the operon off is called a  _______________________.  In Eukaryotic Gene Expression there are three types, name them and what happens as a result of  them:  1. _________________  2. _________________ 3. _________________

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