# Population Genetics INTRODUCT ION:

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1 Population Genetics INTRODUCT ION: An understanding of evolution depends upon knowledge of population genetics. If you have ever asked questions such as the ones that follow, you begin to see why studying population genetics might be useful:. How can O be the most common of the blood types if it is a recessive trait?. If Huntington's disease is a dominant trait, shouldn't three-fourths of the population have Huntington's while one-fourth have the normal phenotype?. Shouldn't recessive traits be gradually swapped out' so they disappear from the population? These questions reflect the common misconception that the dominant allele of a trait will always have the highest frequency in a population and the recessive allele will always have the lowest frequency. On the contrary, there is not the slightest foundation for the idea that a dominant trait should show a tendency to spread over a whole population, or that a recessive trait should die out. How often a gene is present in a population (gene frequency) can be high or low no matter how the allele is expressed, and can change, depending on the conditions that exist. It is the changes in gene frequencies over time that result in evolution. In the year 908 mathematician G. H. Hardy in England and geneticist W. Weinberg in Germany each independently formulated the central theorem of population genetics. This central theorem is now known as the Hardy-Weinberg Principle. The Hardy-Weinberg Principle provides a baseline to determine whether or not gene frequencies have changed in a population and thus whether evolution has occurred. Recall, it is at the population level that evolution occurs. A population is a group of individuals of the same species in a given area whose members can interbreed. Because the individuals of a population can interbreed, they share a common group of genes known as the gene pool. Each gene pool contains all the alleles for all the traits of all the population. For evolution to occur in real populations, some of the gene frequencies must change with time. 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. 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. This is just what Hardy and Weinberg did. Their principle describes a hypothetical situation in which there is no change in the gene pool (frequencies of alleles), hence no evolution. This hypothetical situation makes five assumptions that must hold true in order for equilibrium in the population (no evolution).. No mutation. The alleles must not change.. Random mating. There is no mating preference. For example an AA male does not prefer an aa female.. No genetic drift. Changes in gene pool due to chance.. No gene flow. Exchange of genes between the population and another population must not occur.. No natural selection. Natural selection must not favor any particular individual.

2 Consider a population whose gene pool contains the alleles A and a. 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. Since the sum of all the alleles must equal 00%, then p + q = (allele frequency) So far we have been describing only the occurrence of the alleles in a population. As you know, in individuals, alleles occur in pairs. Thus, every individual in the population has two genes per trait. These alleles can be arranged in one of the following ways: homozygous dominant heterozygous homozygous recessive According to the product rule of probability learned previously, the chance of obtaining a combination of two individual alleles is the product of the chances of receiving each individually. This leads to the second equation of Hardy-Weinberg: p + pq + q =.0 (genotype frequency) Here, p = the frequency of individuals in the population having two dominant alleles; pq = the frequency of those having one dominant and one recessive allele; and q = the frequency of those having two recessive alleles. Using these equations and some information about a given population, you can determine the frequencies of individual genes as well as the frequencies of genotypes in a population. If frequencies of alleles remain at equilibrium over time..no evolution. If the frequencies of alleles change.evolution! Pre-Lab. The cross pq x pq describes the mating of what two kinds of individuals?. Match each of the following symbols with the phrase that defines it. p a. The frequency of homozygous dominant individuals in the population. q b. The frequency of the dominant allele. p c. The frequency of heterozygous individuals in the population. pq d. The frequency of the recessive allele. q e. The frequency of homozygous recessive individuals in the population.. Write the two Hardy-Weinberg equations.. In order for a population to be in Hardy-Weinberg equilibrium, we assume certain conditions must hold true. What are those conditions?

3 Fishy F req uencies: A st ud y of Pop ulati on Gen etic s Group I Fact s a bout t he 'Fish'. These little fish are the natural prey of the terrible fish-eating sharks - YOU!. Fish come with two phenotypes, gold and brown: gold: this is a recessive trait (f). brown: this is a dominant trait (F).. You, the terrible fish-eating sharks, like both fish the same and eat whichever ones you happen to catch.. New fish are born every 'year'; the birth rate equals the death rate. You simulate births by reaching into the container of 'spare fish' and selecting random fish.. Since the gold trait is recessive, the gold fish are homozygous recessive (ff). Because the brown trait is dominant, the brown fish are either homozygous or heterozygous dominant (FF or Ff). 6. The fish are living in an ocean (in the middle of your table). Procedure. Get a random population of 0 fish from the 'ocean.'. Count gold and brown fish and record in your chart; you can calculate frequencies later.. Eat random fish (no peaking).. Add fish from the 'ocean.' (One fish for each one that died.) Be random. Do NOT use artificial selection.. Record the number of gold and brown fish. 6. Again eat fish. 7. Add randomly selected fish, one for each death. 8. Count and record. 9. Repeat steps 6, 7, and 8 two more times. 0. Fill in the class results on your chart and calculate gene frequency and genotype frequency. Group I: Class Data Generation Gold Brown q q p p pq Group I: Individual Data Generation Gold Brown

4 Fishy F req uencies: A st ud y of Pop ulati on Gen etic s Group II Fact s a bout t he 'Fish'. These little fish are the natural prey of the terrible fish-eating sharks - YOU!. Fish come with two phenotypes, gold and brown: gold: this is a recessive trait (f); these fish taste yummy and are easy to catch. brown: this is a dominant trait (F); these fish taste salty, are sneaky and hard to catch.. You, the terrible fish-eating sharks, much prefer to eat the yummy gold fish; you eat ONLY gold fish unless none are available in which case you resort to eating brown fish in order to stay alive.. New fish are born every 'year'; the birth rate equals the death rate. You simulate births by reaching into the container of 'spare fish' and selecting randomly.. Since the gold trait is recessive, the gold fish are homozygous recessive (ff). Because the brown trait is dominant, the brown fish are either homozygous or heterozygous dominant (FF or Ff). 6. The fish are living in an ocean (in the middle of your table). Procedure. Get a random population of 0 fish from the 'ocean.'. Count gold and brown fish and record in your chart.. Eat gold fish; if you do not have gold fish, fill in the missing number by eating brown fish.. Add fish from the 'ocean.' (One fish for each one that died.) Be random. Do NOT use artificial selection.. Record the number of gold and brown fish. 6. Again eat fish, all gold if possible. 7. Add randomly selected fish, one for each death. 8. Count and record. 9. Repeat steps 6, 7, and 8 two more times. 0. Fill in the class results on your chart and calculate gene frequency and genotype frequency. Group II: Class Data Generation Gold Brown q q p p pq Group II: Individual Data Generation Gold Brown

5 ANALYSIS & DISCUSSION: Make sure you have class data from both Group I and Group II before you continue.. What is the basic difference between how Group I did the lab and how Group II did the lab?. According to Hardy-Weinberg, what conditions would have to exist for the gene frequencies to stay the same over time?. In Group I, what was the allele frequency (%) in the population? Homozygous Recessive: Generation Generation Heterozygous: Homozygous Dominant:. In Group II, what was the allele frequency (%) in the population? Homozygous Recessive: Generation Generation Heterozygous: Homozygous Dominant:. What happens to each of the genotypic frequencies from generation to generation in Group I? 6. What happens to each of the genotypic frequencies from generation to generation in Group II? 7. If Group I is experiencing any evolution, what do you think is the cause? 8. If Group II is experiencing any evolution, what do you think is the cause?

6 9. What happens to the recessive allele over successive generations? Would the recessive allele disappear from the population? Explain your answer. For the remaining questions, SHOW YOUR WORK and put a BOX around your answer. 0. What is the frequency of heterozygotes in a randomly mating population if the frequency of recessive phenotypes (aa) is 0.09? HINT: Start by figuring out the q, q & p.. A wild population of butterfly species consists of 99% orange butterflies and % yellow. Genetic tests proved the yellow form to be due to an Autosomal recessive gene. Estimate the percentage of heterozygotes in this population.. The frequency of the human recessive disorder cystic fibrosis is about in every 000 births in North American Caucasians. What proportion of American Caucasians would be expected to be carriers of the CF allele?. In cats, black fur is dominant to white. If 0% of all alleles for fur color in cats in a small town are white (b), and the town has 000 cats, how many of those cats would be expected to be black?

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