Basic Premises of Population Genetics
|
|
- Scarlett Bailey
- 7 years ago
- Views:
Transcription
1 Population genetics is concerned with the origin, amount and distribution of genetic variation present in populations of organisms, and the fate of this variation through space and time. The fate of genetic variation through space and time defines evolution within a species, so population genetics also provides the basis for microevolution Basic Premises of Population Genetics DNA can replicate DNA can mutate and recombine DNA encodes information that interacts with the environment to influence phenotype
2 DNA Can Replicate Because of replication, a single type of gene can exist both in time and space in a manner that transcends the individuals that temporarily bear the gene. Identity by Descent Some alleles are identical because they are replicated descendants of a single ancestral allele
3 The Existence of Genes in Space and Time Is manifest only at the level of a reproducing population Provides the spatial and temporal continuity that is necessary for evolution Deme A Deme is a local population of reproducing individuals that has physical continuity over time and space. Demes are the lowest biological level that can evolve. 3
4 Demes are Characterized by Genotype Frequencies. E.g., Consider a Population of Pueblo Indians Scored for the MN Blood Group Type Blood Type M MN N Genotype MM MN NN Total Number Genotype Freq. 83/40= /40= 0.33 /40= 0.08 Demes are Characterized by Genotype Frequencies. E.g., Consider a Population of Australian Aborigines Scored for the MN Blood Group Type Blood Type M MN N Genotype MM MN NN Total Number Genotype Freq. 9/37 = / 37 = / 37 =
5 Demes with the Same Alleles Can Have Very Different Genotype Frequencies: Pueblo Indians MM 0.59 MN 0.33 NN.08 MM 0.04 MN Australian Aborigines NN 0.67 Gene Pool A Gene Pool is the population of gene copies that are collectively shared by the individuals of a deme. 5
6 Gene Pools are Characterized by Gamete Frequencies (Allele Frequencies when Considering only Locus). E.g., Consider a Population of Pueblo Indians Scored for the MN Blood Group Type Blood Type M MN N Genotype MM MN NN Sum Number Allele (Gamete Type) M N Allele Freq. ( 83+46)/80 = 0.76 ( +46)/80 = 0.4 Gene Pools are Characterized by Gamete Frequencies (Allele Frequencies when Considering only Locus). E.g., Consider a Population of Australian Aborigines Scored for the MN Blood Group Type Blood Type M MN N Genotype MM MN NN Sum Number Allele (Gamete Type) Allele Freq. M ( 9+3)/744 = 0.76 N ( 50+3)/744 =
7 Gene Pool (Alternative Definition) A Gene Pool is the population of potential gametes that can be produced by the individuals of a deme. The Gene Pool As a Population of Potential Gametes Gametes are the bridge from one generation to the next This definition emphasizes the genetic continuity over time of a deme This definition is more useful in evolutionary theory 7
8 Demes and Gene Pools Meiosis Interconnects the Deme to the Gene Pool Therefore, Given Mendel s Laws and Normal Meiosis, You Can Always Calculate the Allele Frequencies in the Gene Pool From the Genotype Frequencies in the Deme Demes and Gene Pools: diploid Pueblo Indian Deme MM MN NN.08 Meiosis Mendelian Probabilities / / In Meiosis haploid M (0.59) + / (0.33) = 0.76 Pueblo Indian Gene Pool N (.08) + / (.33) =.4 8
9 Demes and Gene Pools: MM 0.04 Australian Aborigine Deme diploid MN NN Meiosis / Mendelian Probabilities / In Meiosis haploid M (.04) + / (.304) = 0.76 N (0.67) + / (0.304) = 0.84 Australian Aborigine Gene Pool Demes with the Same Alleles Can Have Gene Pools With Different Allele Frequencies: Pueblo Indians M 0.76 N 0.4 M 0.76 Australian Aborigines N
10 Evolution Is a change in the frequency of alleles or allele combinations over space and time in the gene pool of a reproducing population Is a process that is manifest only at the level of a reproducing population Can never be understood in terms of individuals alone. Requires Genetic Variation Importance of Mutation If DNA replication were 00% accurate, there would be no possibility of genetic change over time: NO EVOLUTION Mutation is the ultimate source of all genetic variation 0
11 DNA Can Mutate & Recombine Occurs at the molecular level before the informational content of DNA is expressed; Hence, mutation is random with respect to the needs of the individual in coping with its environment. Proof of Randomness - Replica Plating
12 Randomness Means Mutations Have a Broad Spectrum of Impacts on Their Bearers Neutral Unfavorable Favorable Effects of 50 Spontaneous Mutation Lines Derived from a Strain of Yeast Growing in a Laboratory Environment. Distribution of fitness effects caused by single-nucleotide substitutions in bacteriophage f Peris, J. B. et al. Genetics 00;85: Copyright 00 by the Genetics Society of America
13 Mutation Creates Allelic Variation Recombination and Diploidy Amplify It E.g., We now know of,000,000 single nucleotide polymorphisms (SNPs), most of which are bi-allelic and can form 3 genotypes each. Recombination Can Produce Gametic Combinations of These 4 million Alleles These Gametes Can Create Genotypes There are Humans In the World There are 0 80 Electrons in the Universe High Genetic Variation Implies: Each Individual Is Unique Evolution Can Occur 3
14 Basic Premises of Population Genetics DNA can replicate DNA can mutate and recombine DNA encodes information that interacts with the environment to influence phenotype A phenotype is a measurable trait of an individual. DNA encodes information that interacts with the environment to influence phenotype Among The Traits That Can Be Influenced By Genetically Determined Responses to the Environment Are:. The Viability in the Environment. Given Alive, the Mating Success in the Environment 3. Given Alive and Mated, Fertility or Fecundity in the Environment. 4
15 Physical Basis of Evolution DNA can replicate DNA can mutate and recombine DNA encodes information that interacts with the environment to influence phenotype Viability Mating Success Fecundity/Fertility These Are Combined Into A Single Phenotype of Reproductive Success Or FITNESS How to Model Microevolution Evolution is a change over time in the frequency of alleles or allele combinations in the gene pool, so any model of evolution must include at the minimum the passing of genetic material from one generation to the next. Hence, our fundamental time unit will be the transition between two consecutive generations at comparable stages. All such trans-generational models of microevolution have to make assumptions about three major mechanisms: Mechanisms of producing gametes Mechanisms of uniting gametes Mechanisms of developing phenotypes. 5
16 How to Model Microevolution In order to specify how gametes are produced, we have to specify the genetic architecture. Genetic architecture refers to the number of loci and their genomic positions, the number of alleles per locus, the mutation rates, and the mode and rules of inheritance of the genetic elements. For example, the first model we will develop assumes a single autosomal locus with two alleles with no mutation. Under this genetic architecture, we need only to use Mendel s first law of inheritance to specify how genotypes produce gametes. Demes and Gene Pools Meiosis Interconnects the Deme to the Gene Pool Therefore, Given Mendel s Laws and Normal Meiosis, You Can Always Calculate the Allele Frequencies in the Gene Pool From the Genotype Frequencies in the Deme Can You Predict the Deme (Genotype Frequencies) from the Gene Pool (Allele Frequencies)? 6
17 AA aa / / Demes AA / 4 Aa aa / / 4 / / A a / / Gene Pools A a / / Hardy (and Weinberg) Solution FERTILIZATION To Go From Gene Pool (Gametes) to Deme (Initially Zygotes),Need to Specify The Rules by Which Gametes Unite (Fertilization) 7
18 Population Structure Population Structure refers to the rules at the level of the deme by which gametes are united in fertilization, thereby defining the transition from haploidy to diploidy. Models in Population Genetics Minimally Specify How To Go From One Generation To The Next Deme of Adult Diploid Individuals Meiosis Gene Pool of Haploid Gametes Fertilization Deme of Adult Diploid Individuals Need to Specify Genotype Frequencies, And Therefore Genetic Architecture (Number of Loci, Alleles per Locus, Linkage, Rules of Inheritance, etc.). Need to Specify Population Structure. Need to Specify How Individuals Develop Phenotypes. 8
19 Assumptions of Hardy-Weinberg Mechanisms of Producing Gametes (Genetic Architecture) One Autosomal Locus Two Alleles No Mutation Mendel s First Law (50:50 Segregation in heterozygotes) Mechanisms of Uniting Gametes (Population Structure) System of Mating: Random Size of Population: Infinite Genetic Exchange: None (One Isolated Population) Age Structure: None (Discrete Generations) Mechanisms of Developing Phenotypes All Genotypes Have Identical Phenotypes With Respect to their Ability for Replicating Their DNA Random Mating Random Mating occurs when both of the gametes united in a zygote are drawn at random and independently from the gene pool. This means that the probability of a gamete bearing a specific allele = the frequency of that allele in the gene pool, and this is true for all gametes involved in fertilization. 9
20 Random Mating A a p q = -p Gene Pool Paternal Gamete A p a q Maternal Gamete A p a q AA Aa p p=p pq aa aa qp q q=q Hardy-Weinberg Genotype Frequencies AA p Aa pq aa q 0
21 Weinberg s Derivation Mendelian Probabilities of Offspring (Zygotes) Mating Pair Frequency of Mating Pair AA Aa aa AA AA G AA G AA = G AA 0 0 AA Aa G AA G Aa = G AAG Aa 0 Aa AA G Aa G AA = G AAG Aa 0 AA aa G AA G aa = G AAG aa 0 0 aa AA G aa G AA = G AAG aa 0 0 Aa Aa G Aa G Aa = G Aa Aa aa G Aa G aa = G AaG aa 0 aa Aa G aa G Aa = G AaG aa 0 aa aa G aa G aa = G aa 0 0 Total Offspring G AA G Aa G aa Summing Zygotes Over All Mating Types: G AA=G AA + [G AAG Aa] + G Aa = [G AA+ G Aa] = p G Aa= [ G AAG Aa]+ G AAG aa+ G Aa + [ G AaG aa]= [G AA+ G Aa][G aa+ G Aa] = pq G aa= G Aa + [ G AaG aa] + G aa = [G aa+ G Aa] = q The Life Cycle for a Population Deme of Diploid Individuals AA G AA Aa G Aa aa G aa Meiosis Mendelian Probabilities / / Gene Pool of Haploid Gametes A p=g AA + / G Aa a q=g aa + / G Aa Fertilization Random Mating p p p q q q Deme of Diploid Individuals AA p Aa pq aa q
22 Random Mating Is Locus Specific Although the Pueblo Indians are randomly mating for the MN Blood Group Locus, They Are Not Randomly Mating For All Loci, e.g., the X and Y Chromosomes Hardy-Weinberg Frequencies Represent An Equilibrium No Assumption is Made About These Genotype Frequencies; They May or May Not Be in Hardy-Weinberg Mendelian Probabilities AA G AA A Aa G Aa / / aa G aa a p=g AA + / G Aa q=g aa + / G Aa Random Mating One Generation of Random Mating Insures These Are Hardy-Weinberg Genotype Frequencies p p p q q q AA Aa aa p pq q
23 Hardy-Weinberg Frequencies Represent An Equilibrium The Frequency of The A Allele in the Next Generation s Gene Pool Is: p = p + / pq = p + pq = p(p + q) = p Therefore, the Gene Pool Is Unchanged Random Mating Mendelian Probabilities A p=g AA + / G Aa AA p Aa pq a q=g aa + / G Aa p p p q q q A p =p + / pq =p(p+q) = p / / a aa q q =q + / pq =q(q+p)=q There Is NO Evolution Under The Hardy- Weinberg Model Random Mating Mendelian Probabilities A p=g AA + / G Aa AA p Aa pq a q=g aa + / G Aa p p p q q q A p =p + / pq =p(p+q) = p / / a aa q q =q + / pq =q(q+p)=q 3
24 Importance of Hardy-Weinberg Acceptance of Mendelian Genetics (Punnett s dilemma) Resurrection of Natural Selection (Jenkin s critique) A useful null model of evolutionary stasis. A valuable springboard for the investigation of many forces of evolutionary change by relaxing its assumptions. Despite the many violations of its assumptions, it works sufficiently well in humans that testing for H-W is used as a standard quality-control procedure in modern genetic surveys. Testing for Hardy-Weinberg Genotype Frequencies. E.g., a Population of Pueblo Indians Scored for the MN Blood Group Type Blood Type M MN N Sum Genotype MM MN NN Number H.-W. Freq. Exp. Number (Obs.-Exp.) Exp. (0.76) = (40) = 8. (83-8.) 8. (0.76) (0.4)= (40) = 50.4 ( ) 50.4 (0.4) = (40) = 8.4 (-8.4) Degrees of Freedom = 3 Categories - - estimated parameter = 4
25 Two Locus Hardy Weinberg Gene Pool AB g AB Ab g Ab ab g ab ab g ab Mechanisms of Uniting Gametes (Random Mating) Zygotic/Adult Population AB/AB g AB AB/Ab g AB g Ab AB/aB g AB g ab AB/ab g AB g ab Ab/Ab g Ab Ab/aB g Ab g ab Ab/ab g Ab g ab ab/ab g ab ab/ab g ab g ab ab/ab g ab Mechanisms of Producing Gametes (Mendel's First Law & Recombination) Gene Pool of Next Generation AB g' AB Ab g' Ab ab g' ab ab g' ab Recombination Occurs in All Genotypes, But Can Change The State of the Parental Gametes Only in Double Heterozygotes. 5
26 Two Locus Hardy Weinberg Gene Pool AB g AB Ab g Ab ab g ab ab g ab Mechanisms of Uniting Gametes (Random Mating) Zygotic/Adult Population AB/AB g AB AB/Ab g AB g Ab AB/aB g AB g ab AB/ab g AB g ab Ab/Ab g Ab Ab/aB g Ab g ab Ab/ab g Ab g ab ab/ab g ab ab/ab g ab g ab ab/ab g ab Mechanisms of Producing Gametes (Mendel's First Law & Recombination) Gene Pool of Next Generation AB g' AB Ab g' Ab Double heterozygotes can produce all four gamete types. ab g' ab ab g' ab Two Locus Hardy Weinberg g' AB = g AB + (g ABg Ab ) + (g ABg ab ) + ( r)(g ABg ab ) + r(g Abg ab ) [ ] + rg Ab g ab [ ] + rg Ab g ab rg AB g ab = g AB g AB + g Ab + g ab +( r)g ab = g AB g AB + g Ab + g ab + g ab = g AB + r(g Ab g ab g AB g ab ) = g AB rd Where D = g AB g ab - g Ab g ab D is called Linkage Disequilibrium or Gametic Phase Imbalance 6
27 Two Locus Hardy Weinberg Similarly, can show: gʼab = g AB - rd gʼab = g Ab + rd gʼab = g ab + rd gʼab = g ab - rd Where D = g AB g ab - g Ab g ab D, linkage disequilibrium It measures the degree of association at the population level between the two sites/loci D is created by many evolutionary forces and historical events, including the very act of mutation because the new mutant variant initially exists on only one chromosomal background. 7
28 Two Locus Hardy Weinberg g AB =g AB -D g Ab =g Ab +D g ab =g ab +D g ab =g ab -D g ij g ij if r > 0 and D 0 That is, Evolution Occurs! Two Locus Hardy Weinberg g AB =g AB -D 0 g Ab =g Ab +D 0 g ab =g ab +D 0 g ab =g ab -D 0 D =g AB g ab -g Ab g ab =D 0 (-r) and D t =D 0 (-r) t The two locus equilibrium is Approached gradually, at a rate determined by r. Historical Information is Encoded in D (and other Multi-locus/site measures) That decays gradually with time! This information persists for long periods of time for tightly linked sites. 8
29 Theoretical Decay of LD in a Random-Mating Population In a genomic region with no recombination, the LD created by mutation never dissipates. Two Locus Hardy Weinberg Equilibrium ( )( g AB + g ab ) p A = g AB + g Ab so p A p B = g + g AB Ab p B = g AB + g ab = g AB + g AB g ab + g AB g Ab + g Ab g ab ( ) + g Ab g ab = g AB g AB + g ab + g Ab = g AB ( g ab ) + g Ab g ab = g AB g AB g ab + g Ab g ab = g AB D As t goes to infinity, D goes to 0 (the equilibrium), so at the two-locus equilibrium, g AB =p A p B, and similarly for the other gamete frequencies. 9
30 At equilibrium the two loci associate at random (proportional to their allele frequencies) in the Population s Gene Pool: B k b m A p a q AB pk=g AB ab qk=g ab Ab pm=g Ab ab qm=g ab D = g AB g ab - g Ab g ab =pkqm-pmqk=0 D 0 measures the degree of non-random association at the population gene pool level between the two sites/loci Many Factors Create Disequilibrium, Including the Very Act Of Mutation Once created, disequilibrium decays at a rate determined in part by recombination, and in part by population structure (as we will see later). 30
31 Linkage disequilibrium is created when mutation creates new variation D = g AB g ab - g Ab g ab = g AB 0-0g ab =0 Initial Gene Pool: A B a B a B Mutation At A Second Site Produces Three Gamete Types: Gene Pool After Mutation: A B a B a b D = g AB g ab - g Ab g ab = g AB g ab - 0g ab = g AB g ab 0 Can see the effects of mutation on Linkage disequilibrium more clearly through D D min p A p B,p a p b D'= D min p A p b,p a p B ( ), D < 0 ( ), D > 0 D varies between - and +, and when mutation first creates the third gamete type, D =- or +, so mutation creates maximal linkage disequilibrium. 3
32 D (or D ) decays with recombination: A B A B a B a B D=0 Mutation At A Second Site Produces Three Gamete Types: A B A B a B a b D = g Recombination AB g ab Produces Four Dʼ = Gamete Types A B A b a B a b D = g AB g ab - g Ab g ab < g AB g ab ; Dʼ < Another Common Measure of Linkage Disequilibrium is r r = D p A p a p B p b r varies from 0 to when the allele frequencies are the same at both loci; otherwise, its range is affected by allele frequencies and are from 0 to some number less than. 3
33 In regions of little to no recombination, the pattern of disequilibrium is determined primarily by the historical conditions that existed at the time of mutation, resulting in little to no correlation of D with physical distance Indel Xmn I TaqI PstI SstI Pvu II Apo AI Apo CIII Apo AIV Significant linkage disequilibrium On larger physical scales, D is negatively correlated with physical distance D S U D i s t a n c e (kb) kb Utah Swed AllYor YorBot YorTop Reich et al. (00 Nature 4:99-04) 33
34 Disequilibrium and Historical Effects Create Both Opportunities and Difficulties for the Analysis of Population Genetic Data, As We Shall See Some lessons from vs. -locus HW: A seemingly slight change in the model can create qualitative differences (e.g., no evolution in locus HW vs. evolution in -locus HW; instantaneous equilibrium in locus HW vs. gradual or no equibrium in locus HW) Scale matters (e.g., the relationship between D and physical distance on different scales of physical distance). The inferences made from a model are often very sensitive to the assumptions of that model. Generalize with care! 34
Biology 1406 - Notes for exam 5 - Population genetics Ch 13, 14, 15
Biology 1406 - Notes for exam 5 - Population genetics Ch 13, 14, 15 Species - group of individuals that are capable of interbreeding and producing fertile offspring; genetically similar 13.7, 14.2 Population
More informationBasic Principles of Forensic Molecular Biology and Genetics. Population Genetics
Basic Principles of Forensic Molecular Biology and Genetics Population Genetics Significance of a Match What is the significance of: a fiber match? a hair match? a glass match? a DNA match? Meaning of
More informationEvolution (18%) 11 Items Sample Test Prep Questions
Evolution (18%) 11 Items Sample Test Prep Questions Grade 7 (Evolution) 3.a Students know both genetic variation and environmental factors are causes of evolution and diversity of organisms. (pg. 109 Science
More informationName: Class: Date: ID: A
Name: Class: _ Date: _ Meiosis Quiz 1. (1 point) A kidney cell is an example of which type of cell? a. sex cell b. germ cell c. somatic cell d. haploid cell 2. (1 point) How many chromosomes are in a human
More informationSummary. 16 1 Genes and Variation. 16 2 Evolution as Genetic Change. Name Class Date
Chapter 16 Summary Evolution of Populations 16 1 Genes and Variation Darwin s original ideas can now be understood in genetic terms. Beginning with variation, we now know that traits are controlled by
More informationChapter 13: Meiosis and Sexual Life Cycles
Name Period Chapter 13: Meiosis and Sexual Life Cycles Concept 13.1 Offspring acquire genes from parents by inheriting chromosomes 1. Let s begin with a review of several terms that you may already know.
More informationChapter 9 Patterns of Inheritance
Bio 100 Patterns of Inheritance 1 Chapter 9 Patterns of Inheritance Modern genetics began with Gregor Mendel s quantitative experiments with pea plants History of Heredity Blending theory of heredity -
More informationChapter 13: Meiosis and Sexual Life Cycles
Name Period Concept 13.1 Offspring acquire genes from parents by inheriting chromosomes 1. Let s begin with a review of several terms that you may already know. Define: gene locus gamete male gamete female
More informationDeterministic computer simulations were performed to evaluate the effect of maternallytransmitted
Supporting Information 3. Host-parasite simulations Deterministic computer simulations were performed to evaluate the effect of maternallytransmitted parasites on the evolution of sex. Briefly, the simulations
More informationBio EOC Topics for Cell Reproduction: Bio EOC Questions for Cell Reproduction:
Bio EOC Topics for Cell Reproduction: Asexual vs. sexual reproduction Mitosis steps, diagrams, purpose o Interphase, Prophase, Metaphase, Anaphase, Telophase, Cytokinesis Meiosis steps, diagrams, purpose
More informationForensic DNA Testing Terminology
Forensic DNA Testing Terminology ABI 310 Genetic Analyzer a capillary electrophoresis instrument used by forensic DNA laboratories to separate short tandem repeat (STR) loci on the basis of their size.
More informationPRINCIPLES OF POPULATION GENETICS
PRINCIPLES OF POPULATION GENETICS FOURTH EDITION Daniel L. Hartl Harvard University Andrew G. Clark Cornell University UniversitSts- und Landesbibliothek Darmstadt Bibliothek Biologie Sinauer Associates,
More informationChapter 8: Recombinant DNA 2002 by W. H. Freeman and Company Chapter 8: Recombinant DNA 2002 by W. H. Freeman and Company
Genetic engineering: humans Gene replacement therapy or gene therapy Many technical and ethical issues implications for gene pool for germ-line gene therapy what traits constitute disease rather than just
More informationChromosomes, Mapping, and the Meiosis Inheritance Connection
Chromosomes, Mapping, and the Meiosis Inheritance Connection Carl Correns 1900 Chapter 13 First suggests central role for chromosomes Rediscovery of Mendel s work Walter Sutton 1902 Chromosomal theory
More informationGenetics and Evolution: An ios Application to Supplement Introductory Courses in. Transmission and Evolutionary Genetics
G3: Genes Genomes Genetics Early Online, published on April 11, 2014 as doi:10.1534/g3.114.010215 Genetics and Evolution: An ios Application to Supplement Introductory Courses in Transmission and Evolutionary
More informationTwo-locus population genetics
Two-locus population genetics Introduction So far in this course we ve dealt only with variation at a single locus. There are obviously many traits that are governed by more than a single locus in whose
More information7 POPULATION GENETICS
7 POPULATION GENETICS 7.1 INTRODUCTION Most humans are susceptible to HIV infection. However, some people seem to be able to avoid infection despite repeated exposure. Some resistance is due to a rare
More informationGene Mapping Techniques
Gene Mapping Techniques OBJECTIVES By the end of this session the student should be able to: Define genetic linkage and recombinant frequency State how genetic distance may be estimated State how restriction
More informationBiology 1406 Exam 4 Notes Cell Division and Genetics Ch. 8, 9
Biology 1406 Exam 4 Notes Cell Division and Genetics Ch. 8, 9 Ch. 8 Cell Division Cells divide to produce new cells must pass genetic information to new cells - What process of DNA allows this? Two types
More information(1-p) 2. p(1-p) From the table, frequency of DpyUnc = ¼ (p^2) = #DpyUnc = p^2 = 0.0004 ¼(1-p)^2 + ½(1-p)p + ¼(p^2) #Dpy + #DpyUnc
Advanced genetics Kornfeld problem set_key 1A (5 points) Brenner employed 2-factor and 3-factor crosses with the mutants isolated from his screen, and visually assayed for recombination events between
More informationBasics of Marker Assisted Selection
asics of Marker ssisted Selection Chapter 15 asics of Marker ssisted Selection Julius van der Werf, Department of nimal Science rian Kinghorn, Twynam Chair of nimal reeding Technologies University of New
More information5 GENETIC LINKAGE AND MAPPING
5 GENETIC LINKAGE AND MAPPING 5.1 Genetic Linkage So far, we have considered traits that are affected by one or two genes, and if there are two genes, we have assumed that they assort independently. However,
More informationA and B are not absolutely linked. They could be far enough apart on the chromosome that they assort independently.
Name Section 7.014 Problem Set 5 Please print out this problem set and record your answers on the printed copy. Answers to this problem set are to be turned in to the box outside 68-120 by 5:00pm on Friday
More informationContinuous and discontinuous variation
Continuous and discontinuous variation Variation, the small differences that exist between individuals, can be described as being either discontinuous or continuous. Discontinuous variation This is where
More informationGenetics Lecture Notes 7.03 2005. Lectures 1 2
Genetics Lecture Notes 7.03 2005 Lectures 1 2 Lecture 1 We will begin this course with the question: What is a gene? This question will take us four lectures to answer because there are actually several
More informationBiology 274: Genetics Syllabus
Biology 274: Genetics Syllabus Description: An examination of the basic principles of genetics in eukaryotes and prokaryotes at the level of molecules, cells, and multicelluar organisms, including humans.
More informationI. Genes found on the same chromosome = linked genes
Genetic recombination in Eukaryotes: crossing over, part 1 I. Genes found on the same chromosome = linked genes II. III. Linkage and crossing over Crossing over & chromosome mapping I. Genes found on the
More informationPrinciples of Evolution - Origin of Species
Theories of Organic Evolution X Multiple Centers of Creation (de Buffon) developed the concept of "centers of creation throughout the world organisms had arisen, which other species had evolved from X
More informationAP Biology Essential Knowledge Student Diagnostic
AP Biology Essential Knowledge Student Diagnostic Background The Essential Knowledge statements provided in the AP Biology Curriculum Framework are scientific claims describing phenomenon occurring in
More informationPopulation Genetics and Multifactorial Inheritance 2002
Population Genetics and Multifactorial Inheritance 2002 Consanguinity Genetic drift Founder effect Selection Mutation rate Polymorphism Balanced polymorphism Hardy-Weinberg Equilibrium Hardy-Weinberg Equilibrium
More informationLecture 10 Friday, March 20, 2009
Lecture 10 Friday, March 20, 2009 Reproductive isolating mechanisms Prezygotic barriers: Anything that prevents mating and fertilization is a prezygotic mechanism. Habitat isolation, behavioral isolation,
More informationHardy-Weinberg Equilibrium Problems
Hardy-Weinberg Equilibrium Problems 1. The frequency of two alleles in a gene pool is 0.19 (A) and 0.81(a). Assume that the population is in Hardy-Weinberg equilibrium. (a) Calculate the percentage of
More informationAP: LAB 8: THE CHI-SQUARE TEST. Probability, Random Chance, and Genetics
Ms. Foglia Date AP: LAB 8: THE CHI-SQUARE TEST Probability, Random Chance, and Genetics Why do we study random chance and probability at the beginning of a unit on genetics? Genetics is the study of inheritance,
More informationLECTURE 6 Gene Mutation (Chapter 16.1-16.2)
LECTURE 6 Gene Mutation (Chapter 16.1-16.2) 1 Mutation: A permanent change in the genetic material that can be passed from parent to offspring. Mutant (genotype): An organism whose DNA differs from the
More informationPractice Problems 4. (a) 19. (b) 36. (c) 17
Chapter 10 Practice Problems Practice Problems 4 1. The diploid chromosome number in a variety of chrysanthemum is 18. What would you call varieties with the following chromosome numbers? (a) 19 (b) 36
More informationSimulation Model of Mating Behavior in Flies
Simulation Model of Mating Behavior in Flies MEHMET KAYIM & AYKUT Ecological and Evolutionary Genetics Lab. Department of Biology, Middle East Technical University International Workshop on Hybrid Systems
More informationChapter 3. Chapter Outline. Chapter Outline 9/11/10. Heredity and Evolu4on
Chapter 3 Heredity and Evolu4on Chapter Outline The Cell DNA Structure and Function Cell Division: Mitosis and Meiosis The Genetic Principles Discovered by Mendel Mendelian Inheritance in Humans Misconceptions
More informationForensic Statistics. From the ground up. 15 th International Symposium on Human Identification
Forensic Statistics 15 th International Symposium on Human Identification From the ground up UNTHSC John V. Planz, Ph.D. UNT Health Science Center at Fort Worth Why so much attention to statistics? Exclusions
More informationLecture 2: Mitosis and meiosis
Lecture 2: Mitosis and meiosis 1. Chromosomes 2. Diploid life cycle 3. Cell cycle 4. Mitosis 5. Meiosis 6. Parallel behavior of genes and chromosomes Basic morphology of chromosomes telomere short arm
More informationBiology Final Exam Study Guide: Semester 2
Biology Final Exam Study Guide: Semester 2 Questions 1. Scientific method: What does each of these entail? Investigation and Experimentation Problem Hypothesis Methods Results/Data Discussion/Conclusion
More information1. Why is mitosis alone insufficient for the life cycle of sexually reproducing eukaryotes?
Chapter 13: Meiosis and Sexual Life Cycles 1. Why is mitosis alone insufficient for the life cycle of sexually reproducing eukaryotes? 2. Define: gamete zygote meiosis homologous chromosomes diploid haploid
More informationHeredity. Sarah crosses a homozygous white flower and a homozygous purple flower. The cross results in all purple flowers.
Heredity 1. Sarah is doing an experiment on pea plants. She is studying the color of the pea plants. Sarah has noticed that many pea plants have purple flowers and many have white flowers. Sarah crosses
More informationBiology Behind the Crime Scene Week 4: Lab #4 Genetics Exercise (Meiosis) and RFLP Analysis of DNA
Page 1 of 5 Biology Behind the Crime Scene Week 4: Lab #4 Genetics Exercise (Meiosis) and RFLP Analysis of DNA Genetics Exercise: Understanding how meiosis affects genetic inheritance and DNA patterns
More informationLecture 6: Single nucleotide polymorphisms (SNPs) and Restriction Fragment Length Polymorphisms (RFLPs)
Lecture 6: Single nucleotide polymorphisms (SNPs) and Restriction Fragment Length Polymorphisms (RFLPs) Single nucleotide polymorphisms or SNPs (pronounced "snips") are DNA sequence variations that occur
More informationA Hands-On Exercise To Demonstrate Evolution
HOW-TO-DO-IT A Hands-On Exercise To Demonstrate Evolution by Natural Selection & Genetic Drift H ELEN J. YOUNG T RUMAN P. Y OUNG Although students learn (i.e., hear about) the components of evolution by
More informationTerms: The following terms are presented in this lesson (shown in bold italics and on PowerPoint Slides 2 and 3):
Unit B: Understanding Animal Reproduction Lesson 4: Understanding Genetics Student Learning Objectives: Instruction in this lesson should result in students achieving the following objectives: 1. Explain
More informationMendelian and Non-Mendelian Heredity Grade Ten
Ohio Standards Connection: Life Sciences Benchmark C Explain the genetic mechanisms and molecular basis of inheritance. Indicator 6 Explain that a unit of hereditary information is called a gene, and genes
More informationPopstats Unplugged. 14 th International Symposium on Human Identification. John V. Planz, Ph.D. UNT Health Science Center at Fort Worth
Popstats Unplugged 14 th International Symposium on Human Identification John V. Planz, Ph.D. UNT Health Science Center at Fort Worth Forensic Statistics From the ground up Why so much attention to statistics?
More informationLecture 7 Mitosis & Meiosis
Lecture 7 Mitosis & Meiosis Cell Division Essential for body growth and tissue repair Interphase G 1 phase Primary cell growth phase S phase DNA replication G 2 phase Microtubule synthesis Mitosis Nuclear
More informationGenetics 1. Defective enzyme that does not make melanin. Very pale skin and hair color (albino)
Genetics 1 We all know that children tend to resemble their parents. Parents and their children tend to have similar appearance because children inherit genes from their parents and these genes influence
More informationHeredity - Patterns of Inheritance
Heredity - Patterns of Inheritance Genes and Alleles A. Genes 1. A sequence of nucleotides that codes for a special functional product a. Transfer RNA b. Enzyme c. Structural protein d. Pigments 2. Genes
More informationGlobally, about 9.7% of cancers in men are prostate cancers, and the risk of developing the
Chapter 5 Analysis of Prostate Cancer Association Study Data 5.1 Risk factors for Prostate Cancer Globally, about 9.7% of cancers in men are prostate cancers, and the risk of developing the disease has
More informationY Chromosome Markers
Y Chromosome Markers Lineage Markers Autosomal chromosomes recombine with each meiosis Y and Mitochondrial DNA does not This means that the Y and mtdna remains constant from generation to generation Except
More informationOkami Study Guide: Chapter 3 1
Okami Study Guide: Chapter 3 1 Chapter in Review 1. Heredity is the tendency of offspring to resemble their parents in various ways. Genes are units of heredity. They are functional strands of DNA grouped
More informationsomatic cell egg genotype gamete polar body phenotype homologous chromosome trait dominant autosome genetics recessive
CHAPTER 6 MEIOSIS AND MENDEL Vocabulary Practice somatic cell egg genotype gamete polar body phenotype homologous chromosome trait dominant autosome genetics recessive CHAPTER 6 Meiosis and Mendel sex
More information10 Evolutionarily Stable Strategies
10 Evolutionarily Stable Strategies There is but a step between the sublime and the ridiculous. Leo Tolstoy In 1973 the biologist John Maynard Smith and the mathematician G. R. Price wrote an article in
More informationHLA data analysis in anthropology: basic theory and practice
HLA data analysis in anthropology: basic theory and practice Alicia Sanchez-Mazas and José Manuel Nunes Laboratory of Anthropology, Genetics and Peopling history (AGP), Department of Anthropology and Ecology,
More informationLAB : THE CHI-SQUARE TEST. Probability, Random Chance, and Genetics
Period Date LAB : THE CHI-SQUARE TEST Probability, Random Chance, and Genetics Why do we study random chance and probability at the beginning of a unit on genetics? Genetics is the study of inheritance,
More informationGenetics Module B, Anchor 3
Genetics Module B, Anchor 3 Key Concepts: - An individual s characteristics are determines by factors that are passed from one parental generation to the next. - During gamete formation, the alleles for
More informationMendelian inheritance and the
Mendelian inheritance and the most common genetic diseases Cornelia Schubert, MD, University of Goettingen, Dept. Human Genetics EUPRIM-Net course Genetics, Immunology and Breeding Mangement German Primate
More informationBioSci 2200 General Genetics Problem Set 1 Answer Key Introduction and Mitosis/ Meiosis
BioSci 2200 General Genetics Problem Set 1 Answer Key Introduction and Mitosis/ Meiosis Introduction - Fields of Genetics To answer the following question, review the three traditional subdivisions of
More informationTrasposable elements: P elements
Trasposable elements: P elements In 1938 Marcus Rhodes provided the first genetic description of an unstable mutation, an allele of a gene required for the production of pigment in maize. This instability
More informationGenetics 301 Sample Final Examination Spring 2003
Genetics 301 Sample Final Examination Spring 2003 50 Multiple Choice Questions-(Choose the best answer) 1. A cross between two true breeding lines one with dark blue flowers and one with bright white flowers
More informationMCAS Biology. Review Packet
MCAS Biology Review Packet 1 Name Class Date 1. Define organic. THE CHEMISTRY OF LIFE 2. All living things are made up of 6 essential elements: SPONCH. Name the six elements of life. S N P C O H 3. Elements
More informationThe correct answer is c A. Answer a is incorrect. The white-eye gene must be recessive since heterozygous females have red eyes.
1. Why is the white-eye phenotype always observed in males carrying the white-eye allele? a. Because the trait is dominant b. Because the trait is recessive c. Because the allele is located on the X chromosome
More informationCCR Biology - Chapter 7 Practice Test - Summer 2012
Name: Class: Date: CCR Biology - Chapter 7 Practice Test - Summer 2012 Multiple Choice Identify the choice that best completes the statement or answers the question. 1. A person who has a disorder caused
More informationMechanisms of Evolution
page 2 page 3 Teacher's Notes Mechanisms of Evolution Grades: 11-12 Duration: 28 mins Summary of Program Evolution is the gradual change that can be seen in a population s genetic composition, from one
More informationGENOMIC SELECTION: THE FUTURE OF MARKER ASSISTED SELECTION AND ANIMAL BREEDING
GENOMIC SELECTION: THE FUTURE OF MARKER ASSISTED SELECTION AND ANIMAL BREEDING Theo Meuwissen Institute for Animal Science and Aquaculture, Box 5025, 1432 Ås, Norway, theo.meuwissen@ihf.nlh.no Summary
More informationComparison of Major Domination Schemes for Diploid Binary Genetic Algorithms in Dynamic Environments
Comparison of Maor Domination Schemes for Diploid Binary Genetic Algorithms in Dynamic Environments A. Sima UYAR and A. Emre HARMANCI Istanbul Technical University Computer Engineering Department Maslak
More informationSeattleSNPs Interactive Tutorial: Web Tools for Site Selection, Linkage Disequilibrium and Haplotype Analysis
SeattleSNPs Interactive Tutorial: Web Tools for Site Selection, Linkage Disequilibrium and Haplotype Analysis Goal: This tutorial introduces several websites and tools useful for determining linkage disequilibrium
More informationA trait is a variation of a particular character (e.g. color, height). Traits are passed from parents to offspring through genes.
1 Biology Chapter 10 Study Guide Trait A trait is a variation of a particular character (e.g. color, height). Traits are passed from parents to offspring through genes. Genes Genes are located on chromosomes
More informationRETRIEVING SEQUENCE INFORMATION. Nucleotide sequence databases. Database search. Sequence alignment and comparison
RETRIEVING SEQUENCE INFORMATION Nucleotide sequence databases Database search Sequence alignment and comparison Biological sequence databases Originally just a storage place for sequences. Currently the
More informationEvolution, Natural Selection, and Adaptation
Evolution, Natural Selection, and Adaptation Nothing in biology makes sense except in the light of evolution. (Theodosius Dobzhansky) Charles Darwin (1809-1882) Voyage of HMS Beagle (1831-1836) Thinking
More informationSexual Reproduction. The specialized cells that are required for sexual reproduction are known as. And come from the process of: GAMETES
Sexual Reproduction Sexual Reproduction We know all about asexual reproduction 1. Only one parent required. 2. Offspring are identical to parents. 3. The cells that produce the offspring are not usually
More informationMEDICAL GENETICS GENERAL OBJECTIVE SPECIFIC OBJECTIVES
SUBJECT MEDICAL GENETICS CREDITS Total: 4.5 Theory 2.5 Practical 2 GENERAL OBJECTIVE To provide students with terminology and knowledge from the field of human genetics that will enable them to understand
More informationF1 Generation. F2 Generation. AaBb
How was DNA shown to be the genetic material? We need to discuss this in an historical context. During the 19th century most scientists thought that a bit of the essence of each and every body part was
More informationList, describe, diagram, and identify the stages of meiosis.
Meiosis and Sexual Life Cycles In this topic we will examine a second type of cell division used by eukaryotic cells: meiosis. In addition, we will see how the 2 types of eukaryotic cell division, mitosis
More informationPaternity Testing. Chapter 23
Paternity Testing Chapter 23 Kinship and Paternity DNA analysis can also be used for: Kinship testing determining whether individuals are related Paternity testing determining the father of a child Missing
More informationGenetics Review for USMLE (Part 2)
Single Gene Disorders Genetics Review for USMLE (Part 2) Some Definitions Alleles variants of a given DNA sequence at a particular location (locus) in the genome. Often used more narrowly to describe alternative
More informationReport. A Note on Exact Tests of Hardy-Weinberg Equilibrium. Janis E. Wigginton, 1 David J. Cutler, 2 and Gonçalo R. Abecasis 1
Am. J. Hum. Genet. 76:887 883, 2005 Report A Note on Exact Tests of Hardy-Weinberg Equilibrium Janis E. Wigginton, 1 David J. Cutler, 2 and Gonçalo R. Abecasis 1 1 Center for Statistical Genetics, Department
More informationAP BIOLOGY 2010 SCORING GUIDELINES (Form B)
AP BIOLOGY 2010 SCORING GUIDELINES (Form B) Question 2 Certain human genetic conditions, such as sickle cell anemia, result from single base-pair mutations in DNA. (a) Explain how a single base-pair mutation
More informationAssociation between Dopamine Gene and Alcoholism in Pategar Community of Dharwad, Karnataka
International Journal of Scientific and Research Publications, Volume 3, Issue 10, October 2013 1 Association between Dopamine Gene and Alcoholism in Pategar Community of Dharwad, Karnataka SOMASHEKHAR
More informationMilestones of bacterial genetic research:
Milestones of bacterial genetic research: 1944 Avery's pneumococcal transformation experiment shows that DNA is the hereditary material 1946 Lederberg & Tatum describes bacterial conjugation using biochemical
More informationScience 10-Biology Activity 14 Worksheet on Sexual Reproduction
Science 10-Biology Activity 14 Worksheet on Sexual Reproduction 10 Name Due Date Show Me NOTE: This worksheet is based on material from pages 367-372 in Science Probe. 1. Sexual reproduction requires parents,
More informationDNA for Defense Attorneys. Chapter 6
DNA for Defense Attorneys Chapter 6 Section 1: With Your Expert s Guidance, Interview the Lab Analyst Case File Curriculum Vitae Laboratory Protocols Understanding the information provided Section 2: Interpretation
More informationVon Mäusen und Menschen E - 1
Von Mäusen und Menschen E - 1 Mus musculus: Genetic Portrait of the House Mouse E - 3 Outline Mouse genome Mouse life cycle Transgenic protocols Addition of genes by nuclear injection Removal of genes
More informationChromosomal Basis of Inheritance. Ch. 3
Chromosomal Basis of Inheritance Ch. 3 THE CHROMOSOME THEORY OF INHERITANCE AND SEX CHROMOSOMES! The chromosome theory of inheritance describes how the transmission of chromosomes account for the Mendelian
More informationCHROMOSOME STRUCTURE CHROMOSOME NUMBERS
CHROMOSOME STRUCTURE 1. During nuclear division, the DNA (as chromatin) in a Eukaryotic cell's nucleus is coiled into very tight compact structures called chromosomes. These are rod-shaped structures made
More information17. A testcross A.is used to determine if an organism that is displaying a recessive trait is heterozygous or homozygous for that trait. B.
ch04 Student: 1. Which of the following does not inactivate an X chromosome? A. Mammals B. Drosophila C. C. elegans D. Humans 2. Who originally identified a highly condensed structure in the interphase
More informationHigh School Science Course Correlations between Ohio s 2010 Course Syllabi and the First Draft of the High School NGSS
High School Science Course Correlations between Ohio s 2010 Course Syllabi and the First Draft of the High School NGSS This document correlates the content in Ohio s course syllabi with the performance
More informationName: 4. A typical phenotypic ratio for a dihybrid cross is a) 9:1 b) 3:4 c) 9:3:3:1 d) 1:2:1:2:1 e) 6:3:3:6
Name: Multiple-choice section Choose the answer which best completes each of the following statements or answers the following questions and so make your tutor happy! 1. Which of the following conclusions
More informationThe Making of the Fittest: Natural Selection in Humans
OVERVIEW MENDELIN GENETIC, PROBBILITY, PEDIGREE, ND CHI-QURE TTITIC This classroom lesson uses the information presented in the short film The Making of the Fittest: Natural election in Humans (http://www.hhmi.org/biointeractive/making-fittest-natural-selection-humans)
More informationIntroduction. What is Ecological Genetics?
1 Introduction What is Ecological enetics? Ecological genetics is at the interface of ecology, evolution, and genetics, and thus includes important elements from each of these fields. We can use two closely
More informationMeiosis is a special form of cell division.
Page 1 of 6 KEY CONCEPT Meiosis is a special form of cell division. BEFORE, you learned Mitosis produces two genetically identical cells In sexual reproduction, offspring inherit traits from both parents
More informationGAW 15 Problem 3: Simulated Rheumatoid Arthritis Data Full Model and Simulation Parameters
GAW 15 Problem 3: Simulated Rheumatoid Arthritis Data Full Model and Simulation Parameters Michael B Miller , Michael Li , Gregg Lind , Soon-Young
More information5. The cells of a multicellular organism, other than gametes and the germ cells from which it develops, are known as
1. True or false? The chi square statistical test is used to determine how well the observed genetic data agree with the expectations derived from a hypothesis. True 2. True or false? Chromosomes in prokaryotic
More informationLAB 8 EUKARYOTIC CELL DIVISION: MITOSIS AND MEIOSIS
LAB 8 EUKARYOTIC CELL DIVISION: MITOSIS AND MEIOSIS Los Angeles Mission College Biology 3 Name: Date: INTRODUCTION BINARY FISSION: Prokaryotic cells (bacteria) reproduce asexually by binary fission. Bacterial
More informationGenetic Variation and Human Evolution Lynn B. Jorde, Ph.D. Department of Human Genetics University of Utah School of Medicine.
Genetic Variation and Human Evolution Lynn B. Jorde, Ph.D. Department of Human Genetics University of Utah School of Medicine. The past two decades have witnessed an explosion of human genetic data. Innumerable
More informationWhat is Evolution? Introduction to Evolutionary Biology. Version 2 Copyright 1996-1997 by Chris Colby [Last Update: January 7, 1996]
Introduction to Evolutionary Biology Version 2 Copyright 1996-1997 by Chris Colby [Last Update: January 7, 1996] volution is the cornerstone of modern biology. It unites all the fields of biology under
More informationINBREEDING depression is the reduction of the value
Copyright Ó 2008 by the Genetics Society of America DOI: 10.1534/genetics.108.090597 A Simple Method to Account for Natural Selection When Predicting Inbreeding Depression Aurora García-Dorado 1 Departamento
More information