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The basic law of population genetics was formulated in 1908 by an English mathematician, G.H. Hardy, and a German physician, Wilhelm Weinberg. This principle or law is concerned with the frequency of alleles of a gene in a randomly interbreeding group of plants or animals. Hardy and Weinberg demonstrated that in such natural populations equilibrium is reached. At this equilibrium the frequencies of the different alleles of a gene remain constant generation after generation, if no disturbing effects occur, such as those caused by mutation, selection, random genetic drift, migration, or meiotic drive. Consider the case in which a gene exists as just two alleles--A and a. Let p equal the frequency of the A allele and q equal the frequency of the a allele. Then, p + q = 1. (Why?) It follows that if random mating occurs, the population should consist of p2 AA individuals + 2 pq Aa + q2 aa individuals (see Table 1). If a population consists of p2 AA + 2pq Aa + q2 aa, the next generation, according to the Hardy-Weinberg law, may be expected to consist of exactly the same frequencies of each zygotic combination. The generation-to-generation constancy that does exist has been tabulated; the frequencies of different mating combinations are shown in Table 2, and the frequencies of the different types of offspring resulting from such matings are summarized in Table 3.

Table 1. The Random Combination of Gametes Results in a Population Consisting of p2 AA + 2pq Aa + q2 aa.

p (A) q (a)

p (A) p2 (AA) pq (Aa)

q (a) pq (Aa) q2 (aa)


3. migration. selection.and aa individuals in a population sample. Males Females p2 (AA) 2 pq (Aa) q2 (aa) p2 (AA) p4 (AA × AA) 2 p3 q (AA × Aa) p2q2 (AA × aa) 2 pq (Aa) 2 p3 q (AA × Aa) 4 p2q2 (Aa × Aa) 2pq3 (Aa × aa) q2 (aa) p q (AA × aa) 2 pq3 (Aa × aa) q4 (aa × aa) 2 2 Table 3. totals in this row are possible. AA = Aa in phenotype). 2 . given a population sample in which the frequencies of individuals having blood types A. AB. Aa and aa has a unique phenotype represents a population in Hardy-Weinberg equilibrium. or random genetic drift. Neither the gene frequency nor the zygotic frequencies will change as long as random mating continues and there are no disturbing effects caused by mutation. calculate the frequencies of the alleles A and a when dominance is complete (i. Therefore. calculate the frequencies of the A.e. it will stay in that equilibrium generation after generation. The Frequency of Different Types of Progeny Resulting From Random Matings in a Population in Hardy-Weinberg Equilibrium Resulting Progeny From Matings Summary of frequency of mating AA Aa Aa 4 4 p (AA × AA) p 4 p3q (AA × Aa) 2 p3q 2 p3q 2 2 2 p q (AA × aa) 2 p2q2 2 2 2 2 4 p q (Aa × Aa) pq 2 p2q2 p2q2 4 pq3 (Aa × aa) 2 pq3 2 pq3 4 q (aa × aa) q4 4 3 2 2 3 2 2 3 2 2 Totals p + 2p q + p q 2p q+ 4p q + 2pq p q + 2pq3 + q4 Totals factored p2 (p2 + 2pq + q2) 2pq(p2 + 2pq + q2) q2(p2 + 2pq + q2) 2 Totals* p 2pq q2 2 2 *p + 2pq +q =1. the student should be able to 1. and a alleles. calculate the gene (allele) frequencies for a population sample in which each of the genotypes AA. 2. Objectives of the Investigation Upon completion of this investigation. A study of these tables indicates that if a population is in Hardy-Weinberg equilibrium. AB. B..Table 2. given the frequencies of A. Aa and aa has a unique phenotype determine whether a sample in which each of the genotypes AA. and O are known. The Determination of the Frequency of Different Matings in a Population Consisting of p2 AA + 2 pq Aa + q2 aa. 4.

Suppose.3) × (0. The frequency of R = 420 = 6 = 3 = 0. Hardy-Weinberg Equilibrium If the population is a Hardy-Weinberg equilibrium.7 20 10 B. 63 possess two R genes and 294 possess one R gene. To make these determinations. (0.42 = 42% may be expected to be Rr (roan).09(700) = 63. 2 × (0. gene frequencies can be determined directly from the phenotypes of the individuals involved.42(700) = 294. that you wish to determine the frequencies of the alleles R (red) and r (white) in a population of shorthorn cattle consisting of 63 RR (red). proceed as follows: A. for example. 294 Rr (roan).49 = 49% may be expected to be rr (white). and type MN (genotype MMN). DETERMINING GENE FREQUENCIES WHEN CODOMINANCE EXISTS The Hardy-Weinberg law need not be used to calculate gene frequencies in cases in which genes exhibit codominance or incomplete dominance.7) × (0. type N (genotype MNMN).7) = 0. Suppose further that you wish to know whether the population is in Hardy-Weinberg equilibrium. The same technique determining gene frequencies and then substituting these frequencies in the Hardy-Weinberg zygotic distribution might be used to determine Whether a human population is in equilibrium for the M and N blood groups.3) = 0.I. 42% of 700 = 0. Gene Frequencies In this population of 700 cattle.90 = 9% of the population may be expected to be RR (red). Similarly. and 343 rr (white) cattle.3) × (0. while (0.3 1400 20 10 Likewise the frequency of r = 294 + 343 (2) = 294 + 686 = 980 1400 1400 1400 = 14 = 7 = 0. 49% of 700 = 0. 9% of 700 = 0. 3 . For such cases. among 1400 genes (2 × 700) are (63 × 2) + 294 = 420 R genes.49(700) = 343. Thus. Applying these percentages to the population of 700 cattle reveals that it is in perfect Hardy-Weinberg equilibrium.7) = 0. The three possible blood types are type M (genotype MM).

II.268 = 26.84 = frequency of the allele. Tt. You can then calculate the frequency (p) of the document allele by subtraction.16 = 0. If.84) = 0. you can estimate gene frequencies knowing that q2 = frequency of homozygous recessive individuals.16 = frequency of the allele.6% of this population expected to be homozygous. Thus. p = (0. Rr.026 q = 0. Estimating the frequencies of these alleles in your genetics class should give you some idea of their frequencies in the population in general. you can then calculate the frequencies of the homozygous dominant individuals (p ) and heterozygous dominant individuals (2pq). Knowing the gene frequencies. because you know that p + q = 1. Studies of individual human families (pedigree studies) have indicated that the ability to taste PTC is due to a dominant gene and that inability to taste the chemical (taste blindness) occurs in the homozygous recessive individuals.8% of this population expected to be heterozygous.0. 4 .84)(0.706 = 70.4% of this sample that is Rh-positive can be divided as follows: 2pq = 2(0. showed that out of a total of 191 students 5 of them (2.026 q = 0.6%) were Rh-negative (rr). the class of Genetics students in 1996. however. you could equate q2 and 26%. q2 = 0. there are two phenotypes – “tasters” and “nontasters” – but three genotypes (TT. PTC tasting 2 Now you can use the Hardy-Weinberg equilibrium to determine the frequencies of the two alleles that regulate the ability to taste the organic compound phenylthiocarbamide (PTC). RR. DETERMINING GENE FREQUENCIES USING THE HARDYWEINBERG LAW When dominance and recessiveness affect a pair of alleles. and tt). r Then p = 1 – q = 1 – 0. it is impossible to detect all three genotypes by their phenotypes and to estimate gene frequencies directly.84) = 0. R It then follows that the 97. you assume the population to be in a Hardy-Weinberg equilibrium.16)(0. Rh blood group For example.

Frequency Number (Decimal Fraction) Phenotype Tasters Non-tasters Total 4. You now know your phenotype. why not? _____________________________________________ If not. how could you go about finding out what your genotype is? _________________________________________________________ __________________________________________________________ 3. If not. take a piece of untreated filter paper and taste it. Before you place the PTC paper on your tongue. The frequency of t for the class data is __________________________________________________________________ The frequency for the T allele is thus ___________________________ Using the Hardy-Weinberg equilibrium. Are you a taster of PTC? ___________ If so. salty. applying the Hardy Weinberg equilibrium to the class data. copy the total class data in the following table. After all of the data are recorded. you may expect the frequency (p2) of TT individuals to be ___________________________________ The frequency (2pq) of Tt individuals is _________________________ 5 5. Procedure You will be given a small piece of filter paper that has been impregnated with PTC. how did PTC taste? Was it sweet. b. Record your phenotype on the table provided on the chalkboard. Do you know your genotype? __________ _________________________________________________________________ a. ________ ________ ________ __________________ __________________ __________________ Now calculate the frequency of the recessive allele. This will serve as a control so that you will be readily able to determine the difference between the taste of the filter paper and the taste of PTC. You will use this paper to determine whether you are a taster.A. bitter. 1. sour. . t. or what? ______________________ 2.

whereas about 30% are taste-blind. How many degrees of freedom do you have in interpreting χ2? __________________________________________________________ Does the class seem to be a representative sample of the U. Table 4. ______________________________________________________________ ____________________________________________________________ Ho: Local sample fits the expected population ratio of 70% tasters: 30% non-tasters (based on North American white population) Alternative hypothesis. 1. Now substitute your data in Table 4 and calculate chi-square (χ2) on the assumption that your class is a sample from a population consisting of 70% tasters and 30% non-tasters. Calculation of chi-square test for the 1996 class data on the ability to taste PTC Phenotype Taster Non-taster Totals Observed Number (O) Expected Number (E) O–E (O – E)2 χ2 = (O-E)2/E What is your conclusion from the results of the χ2 test with regards to the class sample compared with the US populations for the PTC gene? ________________________________________________________________________ 6 . some studies show that about 90% of American blacks are tasters and only 10% are non-tasters. indicate some reasons why the class may not fit this population.B. Chi-Square Test Studies of the frequencies of tasters and non-tasters have shown that among the North American white population about 70% can taste PTC. H1: Local sample does not fit the expected population ratio of 70% tasters: 30% non-tasters Null hypothesis. For example.S white population? If not. Other populations show different frequencies of two phenotypes.

and r. q = frequency of AB allele. B. Random Recombination of Gametes in a Population in which a Gene Exists as Three Separate Alleles Sperms Ova q (A) q(AB) r (a) p (A) 2 p (AA) pq (AAB) pr (Aa) q (AB) pq (AAB) p2 (AB AB) qr (AB a) r (a) pr (Aa) pr (ABa) r2(aa) 7 . and r = frequency of the an allele. type each person’s blood and then determine the frequencies of the different blood types. however. (Why?) The frequencies of the different blood groups are tabulated in Table 5 for a randomly mating population with the gene frequencies p. AB. Table 6. Calculation of the frequency of the A allele: p2 + 2pr + r2 = (p + r) 2 = frequency of the A phenotype plus the frequency of the O phenotype. Calculation of the frequency of the AB allele: This may be obtained most conveniently. To do this. three or more alleles exist in a population. The frequencies of the different phenotypes. with the three alleles A. O blood groups. r. and a. and T. A AA and Aa p2 + 2pr q2 + 2qr B ABAB and ABa B 2pq AB AA O aa r2 ______________________________________________________________________ Gene frequencies may now be estimated. Phenotype Genotypes Frequency *Note that A and AB are both dominant to a but are codominant with respect to each other. by subtraction. Let p = frequency of the A allele. r2 = frequency of the O phenotype. Calculation of the frequency of the a allele: 1. since p and r have already been determined. r = square root of the frequency of the O phenotype. Then p + q + r = 1.DETERMINING GENE FREQUENCIES WHEN THREE ALLELES ARE INVOLVED: ABO human blood group The two preceding examples the genes involved existed as two alleles (R. are as follows: III . t). Table 5 may be summarized as follows: the population should consist of p2 (AA) + 2 pr (Aa) + q2 (ABAB) + 2qr (ABA) + 2pq (AAB) + r2 (AA). (p + r) = square root of the frequency of the A phenotype + the frequency of the O phenotype. p = [√ p2 + 2pr + r2 ] . q. then. In many situations. q and r for the sample that your class represents. Consider the A. 2. q = 1 – (p + r) Apply this information to the calculation of p.r 3.

b. Four Blood Types. early in this century. Notice also that the blood serum of a type A person has antibodies to type B blood. O blood groups were initiated by an Austrian. when mixed with type A human blood.S. d. The results of his studies are found in any beginning Genetics textbook and in most general biology textbooks. Blood serum from the guinea pig would contain these antibodies. if red blood cells from a type A person were injected into a guinea pig. the guinea pig would produce antibodies to A antigen. Thus Aa has type A blood.White Population* 41% 9% 3% 47% 100% The possible reactions are as follows: a. Thus. The antibodies so produced are then capable of reacting with the specific antigen that caused their production. No agglutination – type O blood Agglutination with anti-A only – type A Agglutination with anti-B only – type B Agglutination with both – type AB 8 . Background The study of the physiology and genetics of the A. c. which. Karl Landsteiner. Table 7. the blood serum of a type B person has antibodies to type A blood. Landsteiner (Table 7) found that certain antigens are associated with the human red blood cell (erythrocyte). Each Associated With a Different Antigen Combination and all Genetically Controlled Antibodies Naturally Present in Blood Serum β (anti-B) α (anti-A) Neither α nor β both α and β Blood Type A B AB O Antigen on RBCs A B A and B Neither A nor B Possible Genotypes AA.A. ABa has type B blood. but AAB possesses both of the antigens and has type AB blood. ABa AAB aa Total Approximate Frequencies In Singapore Population 20% 20% 5% 55% 100% Approximate Frequencies In U. Aa ABAB. and the blood serum of a type O person has antibodies to both A and B antigens. The antigens are capable of stimulating antibody production when they are injected into animals such as rabbits or guinea pigs. The A and AB alleles are both dominant to the a allele but are codominant with respect to each other. the blood serum of a type AB person has neither antibody. could cause agglutination (clumping) of the human erythrocytes. Table 7 shows that the four basic blood groups are controlled by three alleles of a single gene. B.

2. show your calculations and determine 1. ______________________________ the frequency of the A allele. 4. complete the following table. O-E (O-E)2 No. ______________________________ the frequency of the AB allele. Gene Frequencies _________ _________ _________ _________ ____________________ ____________________ ____________________ ____________________ Now.When all of the class data have been recorded on the chalkboard. determine whether the class is a random sample of the Singapore population. 3. Ho: Sample fits the expected population ratio of 20% A group: 20% B group: 5% AB group: 55%O group Alternative hypothesis. Null hypothesis. Frequency Blood Type Number (Decimal Fractions) A B O AB B. the frequency of the a allele. Calculation of chi-square on the ABO blood group data on the Assumption that Class (1996) is a Representative Sample of the Singapore Population (O-E)2/E Blood type Observed Expected No. using this information. H1: Sample does not fit the expected population ratio Table 8. Do this by completing Table 7 and calculating χ2. (O) (E) A B AB O Totals χ2 = 9 . Calculating chi-square for ABO blood group Using your class data. _____________________________ What basic assumption are you making about the human population when you calculate gene frequencies in this fashion? ____________________________________________________ C.

How do you go about determining the expected numbers in each blood type? ____________________________________________________________ How many degrees of freedom do you have in interpreting χ2? ____________________________________________________________ 2. What is your interpretation of the χ2 you have just calculated? ________________________________________________ ____________________________________________________________ 4. why not? ____________________________________________________________ ____________________________________________________________ ____________________________________________________________ ____________________________________________________________ ____________________________________________________________ 10 .1. 3. Is the class distribution of blood types comparable to that of the Singapore population? ____________ If not.

038 30.336 .80 .307 24.086 16.386 2.366 3.339 19.20 1.070 12.815 9.351 5.940 23.242 13.50 .578 18.103 .611 18.410 37.592 14.554 .00393 .493 .348 6.307 14.733 3.803 11.652 43.289 8.260 11.346 7.342 14.675 35.337 24.566 44.0642 . of RHTaster students 1 5 2 3 0 10 7 3 10 2 6 3 4 1 14 12 2 14 1 RH(-) 3 4 5 0 1 9 7 3 10 4 3 2 0 2 7 4 3 7 5 5 3 4 1 13 12 1 13 6 6 4 2 1 13 12 1 13 7 3 2 3 4 12 11 1 12 8 2 4 5 0 11 10 1 11 9 7 3 3 0 13 10 3 13 10 5 6 3 0 12 2 RH(-) 11 3 14 11 5 0 3 4 11 9 3 12 1 RH(-) 12 4 3 3 1 11 7 4 11 13 8 4 0 0 12 10 2 12 14 9 2 2 2 14 14 1 15 1 RH(-) 15 8 1 4 1 14 12 2 14 16 6 1 2 1 10 8 2 10 Total 86 45 41 19 186 5 RH(-) 156 35 191 191 191 191 Table 10.649 2.209 30.344 8.030 12.455 1.919 18.558 9.Table 9.95 .991 7.343 9.594 5.115 .99 .822 4.325 3.314 50.953 .277 15.145 1.345 13.01 6.179 10.05 3.0201 .639 9.892 11 .250 .297 .005 1.996 31.488 11.380 6.090 21.442 19.067 15.219 4.070 3.239 1. Table of χ2 values df 1 2 3 4 5 6 7 8 9 10 15 20 25 30 P=.642 5.851 14.711 1.364 .210 11.989 7.475 20.635 2.507 16.940 7.642 3.812 18.558 5.311 25.578 37. 1996 – 1997 class data for the ABO Blood Group.872 1.773 .524 14.337 29.229 8.167 2.000157 .646 2.666 23.088 2.352 .357 4.343 3.261 10.446 1.841 5. RH blood group and PTC Tasting ABO BLOOD GROUP RH BLOOD PTC GROUP Group O A B AB RH+ Taster NonNo.

A. and Simmons. F. 2nd Ed Zar. L. Mass. Genetics.F. Two-way recurrent mutation 9. Engelwood Cliffs. Genetic variation and evolution. Cavalli-Sforza. A primer of population genetics. San Francisco: W. The distribution of human blood groups. 1903. Binkley. Multiple alleles 5.J. 1976. 1996. New York. W. Overdominance 14. Hardy.W. W. Snustad. J.: Carolina Biological Supply Co. Principles of Genetics. Scientific American 231(3):80-89. S.L. Burlington. Hartl. D. N. T. 1982.L.H.E. evolution and man. Blood typing for the classroom. 10th ed. Mourant..P. 1908. 1999. Hardy-Weinberg equilibrium 3..E. 1981.. Laboratory investigations. D. Sunderland. The laws of heredity of Galton and Mendel. John Wiley and Sons. 3rd Ed.L. Mertens.REFERENCES Ayala. Science 28:49-50. Domaniewska-Sobczak. Freeman.C. Genetic fitness 12. Mendelian proportions in a mixed population. and some laws governing race improvement by selection. 2d ed. 1981. Genetic population 2. Transitional polymorphism 12 . Genetic equilibrium 4.: Sinauer Associates. and K. The genetics of human populations. Genetics.R. Castle. 8th Ed. Kopec. and L. Random mating 7. Selection coefficient 13. 1995. Carolina Tips 44(12):49-52. Carolina Biology Reader Series. Cavalli-Sforza. R..Biostatistical analysis. Mutation rate 10. and Hammerstein. New York: Oxford University Press. POPULATION GENETICS DEFINITIONS 1.C. Bodmer. Sex-linkage 6. Genetic polymorphism 15.L. NJ: Prentice-Hall.J. 1976. McMillan Publishing Co.. Non-random mating 8. 1974. Genetic variation 11. Proceedings of the American Academy of Arts and Science 39(8):223-242. A.H. G. M.

In a population of 2. The population shows 100 individuals homozygous for the t allele (genotype tt non-poisonous).TUTORIAL PROBLEMS 1. 800 heterozygous (genotype Tt mildly poisonous) and 1.100 homozygous for the T allele (genotype TT deadly poisonous). a) What is the frequency of the t allele in the population? b) Are the genotypes in Hardy-Weinberg equilibrium? 13 .000 gaboon vipers a genetic difference with respect to venom exists at a single locus. The alleles are incompletely dominant.

2. Three alleles are found at a autosomal locus coding for the enzyme. malate dehydrogenase (MDH) in the spotted chorus frog. These three alleles are codominant. The following numbers were found: M1 M1 M1 M2 M2 M2 M1 M3 M2 M3 M3 M3 Total 8 35 20 53 76 62 254 a) Calculate the frequencies of the M1. b) Using the chi-square test determine whether the MDH genotypes in this population are in Hardy-Weinberg proportions. Chorus frogs were collected from a breeding pond and the genotype of each frog was determined by electrophoresis. M2 and M3 alleles in this population. 14 .

What proportion of females would you expect to have this trait? What proportion of females would you expect to be carriers for this allele? 15 . In some populations approximately 8% of males have a particular type of colour blindness (an X-linked recessive trait).3.

000 mutates to the X-linked recessive allele for haemophilia in each human generation (µ). Assume for the purposes of this population that one h allele in 30. 16 . The mutation frequencies are indicated in the following equation: h+ µ h v where v = 10u.4. What allelic frequencies would prevail at equilibrium under mutation pressures alone in these circumstances? Let pe and qe be the equilibrium gene frequencies of h+ and the h genes. About one normal allele in 300. respectively.000 mutates to the normal alternative in each generation (v).

What is the frequency of the Xlinked recessive gene that codes for the trait? How many females are heterozygous for it? How many males are heterozygous for it? 17 .16 of the females. in a randomly interbreeding population. A selectively neutral.40 of the males and 0.5. X-linked recessive character appears in 0.

TUTORIAL ESSAY QUESTIONS 1. What are the primary effects of the following evolutionary forces on the allelic and genotypic frequencies of a large randomly mating population? a) Mutation b) Natural selection DISCUSS DURING Tutorial/Lab Session THE MAIN POINTS. ATTEMPT THESE ESSAY TYPE QUESTIONS AT HOME. 18 . Discuss the effects oif systematic forces that affect gene frequencies in large randomly mating populations 2.