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By: Candace Petty OBJECTIVES: Upon completion of this exercise, the student will be able to: 1. State the Hardy-Weinberg theorem. 2. State the conditions that must be met for the theorem to apply. 3. Write the general Hardy-Weinberg equation and use it to calculate allelic and genotypic frequencies by using the proper symbols. 4. Demonstrate, with a simple example, that a disequilibrium population requires only one generation of random mating to establish Hardy-Weinberg equilibrium. 5. List the conditions a population must meet in order to maintain Hardy-Weinberg equilibrium. 6. Calculate the allelic and genotypic frequencies in a given population. 7. Calculate the allelic and genotypic frequencies in an actual human population.

INTRODUCTION Hardy-Weinberg Theorem: Use and Application The Hardy-Weinberg theorem is a model used for comparison to determine whether evolutionary change is taking place in a natural population. A population is a localized group of individuals belonging to the same species. If genotypic frequencies in a natural population are not those that the Hardy-Weinberg theorem predicts, then the natural population is influenced by one or a combination of the following microevolutionary processes: genetic drift, gene flow by migration, mutation, non-random mating, and natural selection. Hardy-Weinberg theorem is a model for a “theoretical” population. This model enables population geneticists to compute predictions which serve as a null hypothesis for comparison with a naturally evolving population. A population that fits the Hardy-Weinberg model will more than likely be a population that is very large, isolated from other populations, with no new alleles arising by mutation, that has random mating among individuals, and no natural selection occurring. Populations that fit the model are in Hardy-Weinberg equilibrium. The Hardy-Weinberg formulas allow scientists to determine whether evolution is occurring or has occurred. Any changes in the gene frequencies in the population over time can be detected. The theorem essentially states that if no evolution is occurring, then equilibrium of allele frequencies will remain in effect in each succeeding generation of sexually reproducing individuals. For Hardy-Weinberg equilibrium to be maintained (that NO evolution is occurring) then the five conditions must be met: 1. No mutations must occur so that new alleles do not enter the population. 2. No gene flow can occur (i.e. no migration of individuals into, or out of, the population). 3. Random mating must occur (i.e. individuals must pair by chance) 4. The population must be large so that no genetic drift (random chance) can cause the allele frequencies to change. 5. No natural selection. All genotypes are equal in survival and reproductive success. Differential reproductive success can alter gene frequencies. Obviously, the Hardy-Weinberg equilibrium cannot exist in real life. Some or all of these types of forces all act on living populations at various times and evolution at some level occurs in all living

85 of whom habitually place their left thumb on top when folding their hands. Natural disasters include earthquakes. we can determine the expected proportion of heterozygote: Start by writing down the known information: Total Individuals = 100 Left thumb on top (D) = 85 { p2 = f (D)= 85/100= 0. the smaller the colonizing sample. If we assume that this trait is selectively neutral. etc. or non-random (selective) mating. Genetic drift: change in a population’s allele frequencies due to chance alone. that placing the left thumb on top is a dominant trait coded for by allele (D). fire. thus allowing a simplified method of determining that evolution is occurring.organisms. Example problem: Imagine we have a sample of 100 individuals. migration. The Hardy-Weinberg formulas allow scientists to detect some allele frequencies that change from generation to generation. drought. Natural selection: a difference in survival and fecundity of individuals with certain phenotypes compared with individuals of other phenotypes. two main causes are genetic drift and natural selection. hurricanes. genetic drift. Bottleneck Effect: an effect that reduces the size of a population drastically due to a natural disaster. the less alleles available for utilization. mutation. and that placing the right thumb on top is coded for by recessive allele (d). Population: a localized group of individuals belonging to the same species Gene pool: all the genes of the population Microevolution: a generation-to-generation change in a population’s frequencies of alleles. Founder Effect: When individuals of a population become isolated and colonize a new habitat.85 } . There are two formulas that must be understood and memorized: For allele frequencies: 1 = p + q For genotype frequencies: 1 = p2 + 2pq + q2 p q p2 q2 2pq = = = = = frequency of the dominant allele in the population frequency of the recessive allele in the population percentage of homozygous dominant individuals percentage of homozygous recessive individuals percentage of heterozygous individuals Hardy-Weinberg Equilibrium: Allele and genotypic frequencies do not change from one generation to the next because the population does not experience selection. Hardy-Weinberg Theorem: Frequencies of alleles and genotypes in a population remain constant over generations unless acted on by agents other than Mendelian segregation and recombination of alleles. flooding.

A and a • frequency of the A allele = p • frequency of the a allele = q • p+q=1 • 1-q=p Equations are given by: 1.474 P = f (DD) = 2 2pq = f (Dd) = 0. I) Since each person has two alleles at a gene. we can determine the proportion of heterozygotes in this sample: 2pq = f (Dd) = 2(0.15 to obtain q. because anyone who places the right thumb on top definitely has two copies of the recessive d allele.613)(0.15) and is q2. the proportion of homozygous recessives.387 p = f (D) = 0.or mutational equilbrium • even new mutations have little effect on allele frequencies from one generation to the next • no migration between populations • no selection .474 q2= f (dd) = 0. this theoretical population sample is in Hardy-Weinberg equilibrium.387) + (0. the allele frequency of d = 0.) This equation can be generated in two ways.387) = 0.15 To see if this population is in Hardy-Weinberg equilibrium.15 We take the square root of 0. There are no evolutionary forces taking place at this time. simple substitute the numerical values for p and q into the equation: p2 + 2pq + q2 = 1 (0.no assortive mating or mating by genotype • no mutations .387) 2 =1 Yes. Hardy Weinberg Equation of Population Genetics Assumptions • large population . the allele frequency of D: ½ = 0.387 q = f (d) = 0.613 p+q=1 p + 0.all genotypes reproduce with equal success Basic Relations • two alleles at a gene .613)(0. the distribution of possibilities at the gene is equal to the square of the allele possibilities or (p (A) + q (a))² = p² (AA) + 2pq (Aa) + q² (aa) II) Any person is the result of the union of two gametes which have the probability of containing a specific allele which is equal to the allele frequency or this can be diagrammed as a Punnett square which can be summed to p² (AA) + 2pq (Aa) + q² (aa) . we obtain p.387 = 1 Using the Hardy-Weinberg formula given above.15 Now. Right thumb on top (d)= 100 – 85 = 15 q2 = f (d) = 15/100 = 0.to insure no sampling error from one generation to the next • random mating .) Genotype frequencies are given by the equation: p2 (AA) + 2pq (Aa) + q2 (aa) = 1 2.To calculate the recessive phenotype: The frequency of phenotype right thumb on top is (.613) 2 + 2(0.

The frequency of homozygotes for the normal allele is p² = (0. The square root of the frequency of recessives is equal to the allele frequency of the CF allele q = (0.976)(0. The frequency of the normal allele is equal to 1 .700 US Caucasian newborns have cystic fibrosis which means that the frequency of homozygotes for this recessive trait is q² = 1/1.700 = 0. The frequency of carriers (heterozygotes) for the CF allele is 2pq = 2 (0. using the numbers from above: (2 x 512 + 256) / 2 x 800 = 1280/1600 = 0.00059 B.8 (the simple relationship of q = 1 .024 C.0. B. A.00059)0. C. the M and N antigens are determined by different alleles at the same gene.047 or 1/21 E.024 = 0. individuals have one of three blood types: M.the frequency of the Cf allele p = 1. or NN.p can be used to calculate a q (N) of 0. MN. If all three (or more) genotypes can be identified (ascertained) independently. MN or MN with the corresponding genotypes of MM.046848 homozygous affected = 0. Thus.2) .952576 heterozygous carriers = 0. Thus the population • • • is composed of three genotypes at the calculated frequencies of homozygous normal = 0.) Co-dominant or Incomplete Dominant Traits: a more accurate calculation can be made if all three genotypes can be ascertained and no assumptions have to be made about whether the population obeys the Hardy Weinberg equation. If a population consists of the following: MM MN 512 256 NN 32 The frequency of the M allele is obtained by summing the number of M alleles in the population and dividing by the total or *(2 x number of MM individuals + number of MN individuals) / 2 x total number of individuals *or.976 D.000588 2.5 = 0.024) = 0. it is possible to calculate allele frequencies and genotype frequencies using the Hardy Weinberg equation and its assumptions as follows: A. 1 in 1.976)² = 0.q = 1 .953 F. In the MN blood group system.p (A) q (a) p (A) p² (AA) pq (Aa) q (a) pq (Aa) q² (aa) Calculation of allele frequencies 1) Recessive traits: If the frequency of a recessive trait (such as CF or PKU) is known. allele frequency calculations merely involve adding up the total number of each allele and dividing by the total number of alleles.

ABO Allele Frequencies The Hardy Weinberg equation for population genetics is usually presented for the case of two alleles for one gene.p. The equation can be extended to multiple alleles and the ABO blood group system with three alleles can be analyzed by H-W. B allele frequency The frequency of blood type B individuals is equal to q² + 2qr. If one adds together the frequency of the blood type A and O individuals.D. p + r is equal to the square root of the sum of the frequencies of the A and O individuals. A allele frequency The frequency of blood type A individuals is equal to p² + 2pr. the frequency of blood type O indivduals is equal to r² or r is equal to the square root of the frequency of type O individuals. First. If one adds together the frequency of the blood type B and O individuals. E. the basic allele frequency statement of the H-W equation is modified as follows: let p = the frequency of the A allele let q = the frequency of the B allele. Another way of making the calculation is to remove the multiplications by two as follows: p (A) = (all the AA homozygotes + half the Aa heterozygotes) / the total number of individuals Blood Typing. Thus. 3. 2. the result is q² + 2qr + r² or (q + r)². i allele frequency Clearly. A simple formula then is that the frequency of an allele is given by the following: p (A) = (twice the AA homozygotes + the Aa heterozygotes) / twice the total number of individuals and q (a) = 1 . . the result is p² + 2pr + r² or (p + r)². and let r = the frequency of the i allele. such that p + q + r = 1 The frequency distribution of the various genotypes is given in the following table: Blood Type Genotype Frequency Blood Group Frequency O A ii AA Ai BB Bi AB r² p² 2pr q² 2qr 2pq r² p² + 2pr B AB q² + 2qr 2pq Allele frequency calculation 1.

45 A 0.41) .0. 3. The frequency of the i allele is the square root of 0. q + r is equal to the square root of the sum of the frequencies of the B and O individuals.0. ABO sample calculation The frequencies of the ABO blood types for the US White population are as follows: Type Frequency O 0.07. So. The frequency of the B allele is 1 .Thus. the B allele frequency is 1 .67 = 0.the frequency of i or 0.41 B 0. The frequency of the A allele is the square root of (0. .67 2.0.p .04 1.45 or 0.26.0.67 = 0.10 AB 0.26 .r since the frequencies of all three alleles must add to 1.93 .45 + 0.

what is: p2 = q2 = 2pq = 4. distribute to others. 1. List the five conditions under which the Hardy-Weinberg theorem holds: 1. and submit as your own work. If q=0.49. Define the following terms: (Use your textbook) • • • • • Allele Gene Founder Effect Bottle neck effect Evolution . 4 5. write the equation for the hardy-Weinberg theorem: 3. then what is the frequency of p? 5. Given a population with two alleles (A and a) at a single gene locus.1107 Pre-Lab: Exercise 10 Hardy-weinberg Name_____________________________ Section _______ Date _______________ Do NOT photocopy any portion of this laboratory report form. 2. Any or all of these events will results in an automatic zero “0” for the assignment. 2.28. then what is the frequency of q? 6. 3. Given a population with two alleles (A and a) at a single locus. If p2=0.

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Hardy and Weinberg assigned the letter p to the frequency of the dominant allele A and the letter q to the frequency of the recessive allele a. they share a common group of genes known as the gene pool. Exchange of genes between the population and another population must not occur. Random mating. No migration. The alleles must not change. Because the individuals of a population can interbreed. No mutation. it is at the population level that evolution occurs. some of the gene frequencies must change with time. No natural selection. Their principle describes a hypothetical situation in which there is no change in the gene pool (frequencies of alleles). Consider a population whose gene pool contains the alleles A and a. 4. Natural selection must not favor any particular individual. Since the sum of all the alleles must equal 100%. This is just what Hardy and Weinberg did. hence no evolution. then p + q = 1. For example an AA male does not prefer an aa female.ESTABLISHING HARDY-WEINBERG EQUILIBRIUM ACTIVITY 10. The frequencies of A and a will remain unchanged generation after generation if the following conditions are met: 1. They then reasoned that all the random possible combinations of the members of a population would equal (p+q)2 or p2+ 2pq + q2. A population is a group of individuals of the same species in a given area whose members can interbreed. 3. The population must be large to minimize random sampling errors. Each gene pool contains all the alleles for all the traits of all the population. To determine allelic frequency: p + q = 1 o p is the number of dominant alleles o q is the number of recessive alleles o This equation tells us how often these alleles are found in a particular population (how often each allele occurs) p= ___# A’s____ # of all alleles q= # a’s_____ # of all alleles #A’s= (2 x count of AA individuals) + (count of Aa individuals) #all= (2 x count of all individuals) # a’s = (2 x count of aa individuals) + (count of Aa individuals) . There is no mating preference. 2. The gene frequency of an allele is the number of times an allele for a particular trait occurs compared to the total number of alleles for that trait.1 MATERIALS Gene Pool containing: 60 cards with A alleles 240 cards with a alleles Calculator INTRODUCTION Recall. For evolution to occur in real populations. 5. Gene frequency = the number of a specific type of allele/the total number of alleles in the gene pool An important way of discovering why real populations change with time is to construct a model of a population that does not change. Large population.

record these numbers in your chart. determine your phenotype for the following genetic traits. Make sure that you are the only one who sees the alleles.PROCEDURE 1. (Don’t peak!) Now take your new allele and put it away so you won’t trade it again. 12. Go around the room and find another person to trade with. you take one of their alleles. Aa and aa combinations in the class. record the totals on the DRF 4. 3. record these numbers in your chart. Trade 4 more alleles with 4 more people (only 1 trade with each person). Use the chi-squared test to determine whether your population is in Hardy-Weinberg equilibrium. 8. so that you have 5 pairs. When you have only 5 alleles left in your hand and 5 new ones that are trades. Count how many “A” alleles you have and how many “a” alleles you have. 9. Calculate the frequencies of each of these combinations and record. select 10 cards. 2. sit down. 5. 13. Calculate the frequencies of each of these combinations in your class and record. Let that person take one of your alleles. Aa and aa combinations in your class. 11. 10. After your instructor counts the total AA. From the gene pool. Activity 10. 15. determine the genotypes possible for you and the population. 2. 7.2 HUMAN GENETICS 1. Again. 14. Spread your 10 cards out in one hand as if you were playing cards. After your instructor finishes adding up the total count for the class. Using the students in the workshop as a model for the isolated population. Once the phenotypes are completed with your information and the entire populations. 6. Next determine the phenotype (s) expressed in this population 3. Calculate the frequencies of A and a in your class and record. Repeat steps 8-14 again if the population is not in Hardy-Weinberg equilibrium. Now randomly pair your alleles so that you have 5 sets of alleles just like the genotypes of diploid organisms. pair up your alleles randomly. After your instructor counts the total AA. Trait #1 You Hair Line Widow’s Peak = E Straight = e Population Genotype Phenotype Genotype Phenotype Trait #2 You Earlobes Free Earlobe = A Attached Lobe = a Population Genotype Phenotype Genotype Phenotype . then go back to your seat.

For allele frequencies: 1 = p + q Trait #1: Widows Peak: • • • • • • For genotype frequencies: 1 = p2 + 2pq + q2 Dominant E allele = p Recessive e allele = q What is the allelic frequency of q ? What is the allelic frequency of p ? What is the frequency of the heterozygous individual? What is the frequency of the homozygous recessive individuals? What is the frequency of the homozygous dominant individuals? Is the population in Hardy-Weinberg equilibrium? .Trait # 3 You Hitchhikers Thumb Straight Thumb = T Bent Thumb = t Population Genotype Phenotype Genotype Phenotype Trait # 4 Mid Digit Hair Hair on Mid-digit = H No Hair on Mid-digit = h You Phenotype Genotype Population Phenotype Genotype Calculate the allele and gene frequencies for this isolated population for all four traits.

Trait # 2: Earlobes: • • • • • Dominant A allele = p Recessive a allele = q What is the allelic frequency of q ? What is the allelic frequency of p ? What is the frequency of the heterozygous individual? What is the frequency of the homozygous recessive individuals? What is the frequency of the homozygous dominant individuals? • Is the population in Hardy-Weinberg equilibrium? Dominant T allele = p Recessive t allele = q Trait # 3: Hitch Hikers Thumb: • • • • • What is the allelic frequency of q ? What is the allelic frequency of p ? What is the frequency of the heterozygous individual? What is the frequency of the homozygous recessive individuals? What is the frequency of the homozygous dominant individuals? • Is the population in Hardy-Weinberg equilibrium? Dominant H allele = p Recessive h allele = q Trait # 4: Mid Digit Hair: • • • • • What is the allelic frequency of q ? What is the allelic frequency of p ? What is the frequency of the heterozygous individual? What is the frequency of the homozygous recessive individuals? What is the frequency of the homozygous dominant individuals? • Is the population in Hardy-Weinberg equilibrium? .

Table 10.Calculate the gene frequencies for a population in which 16% of the individuals are homozygous recessive with genotype bb. Any or all of these events will results in an automatic zero “0” for the assignment. The allele for the hair pattern called "widow's peak" is dominant over the allele for no "widow's peak.1 : Individual Allelic frequencies (p+ q = 1) A Count Frequency a total 1 Table 10." In a population of 1. q (the recessive allele) =________________ 2pq (heterozygous)=_______________________ p (the dominant allele) =________________ q2 (homozygous recessive) = ________________ p2 (homozygous dominant) =_____________ 3. distribute to others. and submit as your own work. 510 show the dominant phenotype. How many individuals would you expect of each of the possible three genotypes for this trait? . Also determine the frequencies for genotypes BB and Bb.000 individuals.Data Report Form: Exercise 10 1107 hardy-weinberg Name________________________________ Section ________ Date _________________ Do NOT photocopy any portion of this laboratory report form.2 : Individual Genotypic frequencies (p2 + 2pq + q2 = 1) AA Round 1 Random mating 1 Random mating 2 Counts Aa aa total Frequencies AA Aa aa total 1 1 1 2.

If there are 338 butterflies in a population of 431 that express the dominant phenotype for black wing color. What is the frequency of the heterozygous individuals. What is the allelic frequency of q ? D. Assuming that the black hair is dominant over the white. What is the allelic frequency of p ? E. then the values for the following are: p= p2= q= q2= 6. 3 out of every 10 birds display the recessive phenotype for floppy tail. What is the percentage of the cat population exhibiting the white hair phenotype? C. then what are the values for: p= p2= q= q2= . while the remaining cats expressed a white fur phenotype. A survey of 212 cats was conducted with 178 cats having black fur coats. determine the following: A. What is the percentage of the cat population exhibiting the black hair phenotype? B.4. If in a population of ruddy ducks. carriers? 5.

lewport. http://www.edu/~sabedon/biol1123.brooklyn.org/19926/java/library/article/09a.utah.uca.html Several experiments on Mendel’s work (simulations) http://www.html PTC tasting: http://www3.html Lecture Notes on Hardy-Weinberg (HW) http://www.gov/entrez/dispomim.uk/genetics/wrkshp4.edu/ Developmental Biology weblinks.nodak. Genetics: Handouts on classroom population genetic traits http://gslc.html Mendel genetic problems.htm Great HW problems: http://www.psu.genetics.wnyric.brooklyn.utah.thinkquest.ohio-state.utah. Activities Exchange http://www.edu/units/basics/bodypatterns/ A genetic tree of traits teacher & student http://gslc.org/library/site_sum.Inv.ndsu.utk.genetics.htm ANIMATED.References & Links for Hardy-Weinberg. great problems: http://www.htm AP Bio Lab on HW http://www.html Mendel’s 1st law of segregation: http://www.html?tname=19926&url=19926/java/library/article/09a.edu/bc/ahp/MGInv/MGI. movies.edu/~gross/bioed/bealsmodules/hardy-weinberg.tiem.ncbi.cuny.biosci.htm ****General Strategies for solving Hardy-Weinberg problems**** Must use this** http://www.virginia.genetics.htm Population genetic problems Uni Arizona http://nitro.mansfield.people.mansfield.georgetown.org/AE/AEPC/WWC/1995/hardyweinberg.nih.synapses.edu/bc/ahp/MGInv/MGI.htm AWESOME F1 & F2 GENERATION SIMULATION: CAN plant own corn etc. evolution.html Oracle ThinkQuest: Evolution Revolution (life science.arizona.edu/class/hardy/hardy2. interactive pages. Interactive basics in Biology: http://gslc.utah.cuny.edu/units/basics/ http://gslc.pdf Genetic workshop HW problems: http://www. etc http://gslc.htm Genetic Equilibrium: the Hardy-Weinberg Law (A ThinkQuest Exercise) http://library.edu/~rjh9u/domrec.accessexcellence.co.ohio-state.org/jwanamaker/download/hardy-weinberg.edu/~sabedon/biol1509.edu/instruct/mcclean/plsc431/mendel/mendel1.edu/teachers/files/traits_inventory111.pdf Hardy-Weinberg Calculator http://bioserver.Q3.thinkquest.html AccessExcellence: National Health Museum: Lesson Plans.cgi?id=171200 .html More genetics problems w/ answers http://faculty.genetics.nlm.edu/~benw/biol4415/answers.utah. scie & technology) http://www.edu/teachers/files/traits_inventory111. Mendel.pdf http://www.genetics.edu/faculty/w/x/wxm15/Online/Evolution/hardy_weinberg_ws_01.edu/courses/EEB182/handouts/spopgen.personal.

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