genetics chapter 16-21 – Flashcards

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Transcription in prokaryotes and eukaryotes is similar in that
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both are regulated by attachment of proteins to DNA adjacent to the gene being transcribed
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The primary point of control for most genes for the amount of gene product synthesized is
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initiation of trancription
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Zinc-finger peptide motifs are responsible for what aspect of protein function?
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DNA binding
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DNA sequences that serve as binding sites for proteins regulating transcription and are often found adjacent to a gene are said to be
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cis-acting
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What is the name of the cis-acting DNA sequence that serves as the binding site for the transcriptional initiation complex?
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promoter
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What is the term for the cis-acting DNA sequences that often function at a distance from the gene they are regulating?
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enhancer elements
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cis-acting DNA sequence that modulates the basal rate of transcription of a gene is termed a(n)
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enhancer
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In generating a reporter construct to study gene regulation, the reporter gene introduced replaces
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the coding region of the gene being studied
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Mutations altering the amount of protein synthesized from a reporter construct occur most often in which of the following sequences of DNA?
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cis-acting DNA elements
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The gene products encoded by trans-acting elements perform their function by
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associating with regulatory sequences distant from the gene from which they were transcribed
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Trans-acting proteins that influence transcription are commonly referred to as
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transcription factors
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What does RNA polymerase I synthesize?
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rRNA
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tRNA molecules are transcribed by
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RNA polymerase III
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The promoter of nearly all eukaryotic genes contains a(n)
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RNA polymerase binding region, TATA box, and initiation site
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Which of the following is NOT true of enhancer DNA sequences?
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they contain the TATA box regulatory element
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A transcription factor that increases initiation of transcription by associating with an enhancer element is termed a(n)
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activator
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The primary function of basal transcription factors is to
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assist in associating RNA polymerase with the promoter element
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What is the name for the basal transcription factors that associate with TBP to assist in initiating transcription from eukaryotic class II genes?
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TAFs
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What is name of the motifs that function to promote the DNA-binding activity of many transcriptional activator proteins?
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zinc finger
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Proteins that consist of two identical polypeptide subunits are classified as
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homodimers
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What is the term for transcription factors that decrease transcriptional activity by associating with specific enhancer elements or activator proteins?
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repressors
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Which of the following is NOT a mechanism employed by repressor proteins to decrease transcription of a specific gene?
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the repressor binds to RNA polymerase 2, blocking its ability to associate with promoter elements
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What is the term for the repeating structural unit of chromatin, consisting of approximately 200 base pairs of DNA and associated histone proteins?
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nucleosome
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DNA regions that are transcriptionally silenced by hypercondensation have often undergone a modification of their cytosine residues termed
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methylation
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What is the term used to describe a situation in which a gene's expression pattern is dependent upon the parent from which it was inherited?
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genomic imprinting
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A variation that does not involve a change in DNA sequence but can be passed from one generation to another is a(n)
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epigenetic phenomenon
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Insulators act to
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interfere with the action of enhancer-activator complexes with specific promoters
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To create transgenic mice DNA is injected into
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a pronucleus of a zygote
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What is the purpose of the P element in the creation of transgenic Drosophila?
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efficiently transfer DNA into Drosophilia chromosomes
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The Ti plasmid allows for
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the transfer of the plasmid from Agrobacterium to a plant cell
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Transgenic organisms can help clarify which gene may be responsible for a particular phenotype since
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individuals with the phenotype frequently carry other mutations as well
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How can transgenics be used in gene expression studies?
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a reporter gene can be cloned so that it is under' control of tissue specific regulatory regions
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Although bacteria can be used for the production of proteins useful for therapeutic uses what can be a disadvantage to using a prokaryotic system?
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proteins may not be post translationally processed correctly
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What is a possible disadvantage of using genetically modified crops?
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the transgene may make its way into non transgenic plants
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Transgenic animals can be limited in terms of their study of the links between diseases and specific genes since
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the transgene may be dominant and some disesases are caused by recessive mutations
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A unique trait of embryonic stem cells that make them useful for generating knockout animals is that they
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are totipotent
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Why are conditional knockout animals desirable?
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genes that are essential for development can be deleted in the adult
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Knockin mice can be created using the Cre-lox system. In this procedure the mutation to be knocked in is
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cloned outside of the two lox sites
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TALENs are bioengineered molecules that include an endonuclease peptide and a
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DNA binding domain created from motifs of a bacterial protein
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Currently the two main vectors for delivery of therapeutic genes for human gene therapy are
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AAV and retroviruses
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What is one problem associated with using retroviruses as human gene therapy vectors?
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their random integration into the host chromosome may result in detrimental mutations
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Which of the following is not one of the three characteristics of value to geneticists for model organisms?
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small genome
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Evolution has had what effect on development in various organisms?
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conservation of many genes and genetic pathway
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Which model organism would be best suited for studying cellular lineage?
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c elegans
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The Aniridia gene in humans is involved in eye formation. Although eye development is very different in flies, this gene is highly conserved. What is its homolog in Drosophila?
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eyeless (ey)
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Which of the following is not a type of loss-of-function mutation?
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ectopic
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A partial loss-of-function mutation is
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hypomorphic
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What is the most significant advantage of using RNAi to study development?
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genetic studies on a single gene can be completed without the creation or isolation of a new mutant organisms
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Results from RNAi studies are most likely to vary due to
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variation in the amount of RNAi expressing plasmids transfected into cells
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Mutations that result in a new phenotype for a gene through the production of too much protein are best described by the term
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gain of function
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The expression of a gene at an abnormal place or time is called
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ectopic
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What is the most common cause of rare spontaneous ectopic gene expression?
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a mutation that moves the gene next to a new regulatory element
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The presence of a homeodomain in a protein suggests what about its function?
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it is a transcription factor
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How would you best follow the developmental timing of a given protein in vivo?
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using a GFP fusion protein transgenic organism
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Screening for maternal-effect mutations would involve looking for which of the following?
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embryos that are obviously developmentally arrested
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Which of the following is a zygotic gap gene in Drosophila?
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knirps (kni)
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Cells that provide large amounts of mRNA and proteins for deposition into the egg are called
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nurse cells
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Signaling factors that complete cell-to-cell communication in the form of direct contact are called
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juxtacrine factors
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A ligand secreted from a cell to a nearby cell that signals developmental differentiation is called
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paracrine factor
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What is a major advantage of using a sensitizer screen as opposed to a primary screen?
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sensitizer screens can be used to identify redundant genes
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How are temperature sensitive mutants used to determine when genes act during development?
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embyros can be shifted to the non-permissive temperature to inactivate the mutant gene and the effect of inactivation on subsequent stages observed
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How can epistatic interactions be used to order genes in a pathway?
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organisms that are homozygous recessive for two different genes will have the phenotype of an organism that is homozygous recessive for the gene that is first in the pathway
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Expression of homeotic genes
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assign a unique identity to each segment
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The enzymatic activity of CDKs are regulated by their forming a complex with which proteins?
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cyclins
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Which statement best describes the action of polypeptide growth factors?
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they bind to cell surface receptors and trigger intracellular signal transduction pathways
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The retinoblastoma (Rb) protein regulates progression into S phase by regulating ___________ activity.
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E2F
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The activity of Rb is regulated by
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its phosphorylation state
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Which of the following is least likely to occur from the inactivation of p53?
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increased propensity to arrest in G1
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A programmed cell change that results in cell death is referred to as
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apoptosis
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What is a characteristic that is typical of a cancer cell but not of a normal cell?
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ability to invade surrounding tissue
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The enzyme telomerase is essential for unlimited cell division since
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a lack of telomerase will result in chromosome shortening and cell death
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What is a common type of genomic change that occurs in cancer cells?
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polyploidy
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The ability of a cell to move to other parts of the body is known as
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metastasis
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The current model of cancer development is that
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a cancer develops from a single cellthat evolves through multiple mutations
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In its active form, the RAS protein is associated with
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GTP
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What is one experimental result that supports the hypothesis that cancers are clonal?
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cells from cancers of women have the same X chromosome inactivated
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What is the term for a mutated gene that can act dominantly to predispose a cell to a cancerous phenotype?
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oncogenes
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How can a mutation in a tumor suppressor behave as a recessive allele at the cellular level but appear as a dominant allele in pedigree analysis?
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At the cellular level both alleles need to be mutated for an en effect while in a pedigree the cancer may be vertically inherited.
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The human papilloma virus (HPV) carries a gene that functions as an oncogene by inactivating the p53 protein. The fact that the loss of p53 function is oncogenic suggests that
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p53 normally functions to prevent uncontrolled cell division
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Why are some individuals predisposed to getting cancer?
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they inherit mutant alleles of genes that are involved in cancer development
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What is the relationship between chromosomal stability and proliferation?
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The greater the chromosomal instability the higher the probability of getting cells that have a higher proliferation rate.
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Drugs such as Gleevec and Herceptin represent a modern approach to cancer treatment since they
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specifically target gene alterations that occur in some cancer
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What is one reason why tumor suppressor genes make poor drugable targets?
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the tumor supressor proteins may not even be produced
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What kind of information will be used for personalized cancer treatment?
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whole genome sequencing
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Genetic testing for cancer can
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indicate increased risk of certain cancers
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Biological ancestry describes the
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parentage and not shared genes
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The sum total of all alleles carried in all members of a population is called its
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gene pool
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In forensics analysis 13 loci are types and the probability of finding an individual in a population with that specific combination of SSR types calculated based on
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the Hardy Weinberg law
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The proportion of individuals in a population that are of a particular phenotype is the
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phenotype frequency
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The proportion of individuals in a population that are of a particular genotype is the
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genotype frequencies
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Which of the following is not one of the assumptions of the Hardy-Weinberg law?
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non random mating occurs within the population
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In humans, brachydactyly is a dominant condition; 6,400 people in a population of 10,000 show the disease (1,600 are BB, 4,800 are Bb) and 3,600 are normal phenotypes (bb). The frequency of the b allele is
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0.6
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The frequency of the Hemoglobin A allele is 0.9. The heterozygote with the recessive allele, s, shows resistance to the malarial parasite. What is the frequency of the heterozygote for the pair As?
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0.18
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The Hardy-Weinberg equation is best at predicting short term genotypic frequencies since
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over the long term some of the assumptions of the equation will not be true
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New mutations that arise within a population are typically lost primarily due to
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populations are of a finite size and new mutations are frequently lost by genetic drift
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Many human recessive genetic diseases are maintained despite continuing selection against them because
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heterozygotes have a higher fitness than either homozygote
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What evidence supports the hypothesis that humans originated in Africa?
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Mt sequence variation is highest in African populations
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How has DNA sequencing clarified the relationship between modern humans and other lineages?
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it has demonstrated that modern humans interbred extensively with other lineages
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The loss of allelic variation due to an event that decreases the size of the entire population is called
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population bottleneck
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Why do the alleles that confer insecticide resistance in mosquitoes become less frequent in the population when insecticide application is disconintued?
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the alleles for resistance had a negative fitness cost
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Multifactorial traits
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are affected by both genetic and environmental factors
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The total phenotype variance (VP) is
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the sum of genetic variance (Vg) and environmental variance (Ve)
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Broad sense heritability is defined as
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Vg/Vp
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The total genetic relatedness of two siblings is
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0.5
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Which of the following is not true about monozygotic twins?
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they have a genetic relatedness of 0.5
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The response to selection, R, is equal to
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h2S
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A number of interacting genes produce quantitative inheritance. The transmission of these genes can be seen in the phenotypical pattern of
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continuous variation in phenotypic expression
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Multifactorial inheritance is observed in phenotypes that show typically
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a bell shaped distribution
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Twins from two individual zygotes (dizygotic twins)
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are related genetically the same as non-twin siblings
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In an experiment to distinguish genetic versus environmental effects on a phenotype it is important to make sure that the test individuals
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are as genetically identical as possible
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Introgressions are used to
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fine map QTLs
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By definition linkage disequilibrium means that
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two allelic variants correlate with the presence of a particular phenotype
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