How do alleles behave




















Over time, we would expect that the Ellis-van Creveld condition would reduce survival rates of those that bear it, mostly because of the heart defects. This would result in a reduction in the allele frequency and this could be detected using the Hardy-Weinberg Equilibrium equation.

However, the symptoms associated with Ellis-van Creveld disease don't impair survival until after the person has likely reproduced, making it hard for natural selection to eliminate since the trait is already passed on before it hurts anyone.

Evolution results from the combined effect of many forces. Genetic drift is an important one but does not operate in a vacuum. When a population suffers a sudden catastrophic decline and is then repopulated by a small group of survivors, it is called a:. First, it is useful for calculating allele and genotype frequencies for populations at a certain point in time. It may not predict the future, but it can at least help describe the present.

Secondly, the value of the Hardy-Weinberg principle is in helping us discover when a certain gene is being subject to natural selection or some other evolutionary force. If the Hardy-Weinberg Equilibrium predictions do not hold, then we know that something interesting is happening to that gene in the population. When it comes to gene frequencies, the squaring of both sides of the equation represents fertilization — the fusion of sperm and egg.

The sperm or egg cells are gametes, reproductive cells having half the number of chromosomes of a mature cell. When the two gametes are joined in the creation of a new organism, the frequency of each allele is multiplied.

The genotype frequency of the resulting individual is the frequency of the maternal allele times the frequency of the paternal allele. Remember that p and q represent the allele frequencies, or the number of times that allele appears on the genes of the individuals in the population.

While p 2 , q 2 , and 2 pq represent the genotype frequencies, or the number of individuals in a population with the various types of genotypes homozygous recessive , homozygous dominant , or heterozygous. This quadratic relationship is also the mathematical expression of the dihybrid cross of selected individuals a dihybrid cross is when two parents that differ by two pairs of alleles mate , but applied to a random population.

For more on dihybrids, see our module Mendel and Independent Assortment. In the dog example above, the frequency of p , the allele for a long tail, equals 0. Therefore the frequency of homozygous dominant dogs would be 0. Finally, 2 pq represents the frequency of heterozygous dogs, those with both the long and short tail allele, which is 2 x 0. We can check our math by ensuring the frequency of each phenotype adds up to one: 0. In the Hardy-Weinberg Equilibrium equation, the symbol q represents the:.

Suppose that we have rabbits. The other 12 have black fur, which is a recessive trait, so we know that those 12 are homozygous for the black fur gene. Therefore, q represents the frequency of the recessive allele. We can actually calculate q because we know q 2. To find q , we calculate the square-root of 0. Using this knowledge, we can calculate the other frequencies using the Hardy-Weinberg Equilibrium equation.

If the black fur allele equals 0. Since there are rabbits total, that means 42 of them are homozygous dominant for an agouti coat. If 42 are homozygous dominant agouti fur and 12 are homozygous recessive black fur , how many are heterozygous agouti fur with only one agouti allele? The Hardy-Weinberg Equilibrium equation predicts that this frequency should equal 2 pq.

The math is correct! Changes in the genetic makeup of a population affect the incidence of certain traits and diseases within the population. Beginning with a look at the abnormally high rate of a dangerous health condition in US Amish communities, this module explores forces that affect a population's gene pool.

Among them are natural selection, gene flow, and two types of genetic drift: founder effects and bottleneck events. The Harvey-Weinberg Equilibrium equation is presented along with sample problems that show how to calculate the frequency of specific alleles in a population. Variants in genes are called alleles. Alleles can be dominant, meaning they are always expressed, or recessive, meaning that only individuals that receive defective copies from both parents are affected.

The work of Gregor Mendel on genes and inherited traits was important in the development of early genetic theories of traits. In a population, the frequencies of alleles the variations of genes , genotypes the alleles an individual possesses , and phenotypes the characteristics an individual expresses due to the alleles will remain constant, or at equilibrium, unless acted upon by a force.

Genetic drift refers to changes in gene frequencies due to random events, which can happen very quickly, producing dramatic and sudden effects. There are two main types of genetic drift: bottleneck events when a population suffers a sudden catastrophic decline and is repopulated by a small group of survivors and Founder effects when a new population is started by just a few members of the original population.

Reading Quiz Resources Table of contents Reginald Punnett and early research The Hardy-Weinberg Equilibrium Evolutionary forces How genetic drift works Types of genetic drift Bottleneck events Founder effects Calculating the frequencies of alleles Example: rabbit fur Terms you should know bottleneck : a point of congestion in a system.

Since each individual carries two alleles per gene, if the allele frequencies p and q are known, predicting the frequencies of these genotypes is a simple mathematical calculation to determine the probability of getting these genotypes if two alleles are drawn at random from the gene pool. So in the above scenario, an individual pea plant could be pp YY , and thus produce yellow peas; pq Yy , also yellow; or qq yy , and thus producing green peas Figure 1.

In other words, the frequency of pp individuals is simply p 2 ; the frequency of pq individuals is 2pq; and the frequency of qq individuals is q 2. Figure 1. When populations are in the Hardy-Weinberg equilibrium, the allelic frequency is stable from generation to generation and the distribution of alleles can be determined from the Hardy-Weinberg equation. If the allelic frequency measured in the field differs from the predicted value, scientists can make inferences about what evolutionary forces are at play.

In plants, violet flower color V is dominant over white v. How many plants would you expect to have violet flowers, and how many would have white flowers? In theory, if a population is at equilibrium—that is, there are no evolutionary forces acting upon it—generation after generation would have the same gene pool and genetic structure, and these equations would all hold true all of the time. Of course, even Hardy and Weinberg recognized that no natural population is immune to evolution.

Populations in nature are constantly changing in genetic makeup due to drift, mutation, possibly migration, and selection. As a result, the only way to determine the exact distribution of phenotypes in a population is to go out and count them.

But the Hardy-Weinberg principle gives scientists a mathematical baseline of a non-evolving population to which they can compare evolving populations and thereby infer what evolutionary forces might be at play. If the frequencies of alleles or genotypes deviate from the value expected from the Hardy-Weinberg equation, then the population is evolving.

Figure 2. The distribution of phenotypes in this litter of kittens illustrates population variation. Individuals of a population often display different phenotypes, or express different alleles of a particular gene, referred to as polymorphisms.

Populations with two or more variations of particular characteristics are called polymorphic. Understanding the sources of a phenotypic variation in a population is important for determining how a population will evolve in response to different evolutionary pressures. Because alleles are passed from parent to offspring, those that confer beneficial traits or behaviors may be selected for, while deleterious alleles may be selected against.

Acquired traits, for the most part, are not heritable. If there is a genetic basis for the ability to run fast, on the other hand, this may be passed to a child. Heritability is the fraction of phenotype variation that can be attributed to genetic differences, or genetic variance, among individuals in a population. The diversity of alleles and genotypes within a population is called genetic variance. This also helps reduce the risks associated with inbreeding , the mating of closely related individuals, which can have the undesirable effect of bringing together deleterious recessive mutations that can cause abnormalities and susceptibility to disease.

For example, a disease that is caused by a rare, recessive allele might exist in a population, but it will only manifest itself when an individual carries two copies of the allele.

Because the allele is rare in a normal, healthy population with unrestricted habitat, the chance that two carriers will mate is low, and even then, only 25 percent of their offspring will inherit the disease allele from both parents. While it is likely to happen at some point, it will not happen frequently enough for natural selection to be able to swiftly eliminate the allele from the population, and as a result, the allele will be maintained at low levels in the gene pool.

However, if a family of carriers begins to interbreed with each other, this will dramatically increase the likelihood of two carriers mating and eventually producing diseased offspring, a phenomenon known as inbreeding depression.

Changes in allele frequencies that are identified in a population can shed light on how it is evolving. In addition to natural selection, there are other evolutionary forces that could be in play: genetic drift, gene flow, mutation, nonrandom mating, and environmental variances. The theory of natural selection stems from the observation that some individuals in a population are more likely to survive longer and have more offspring than others; thus, they will pass on more of their genes to the next generation.

The pack leader will father more offspring, who share half of his genes, and are likely to also grow bigger and stronger like their father.

Over time, the genes for bigger size will increase in frequency in the population, and the population will, as a result, grow larger on average. That is, this would occur if this particular selection pressure , or driving selective force, were the only one acting on the population. In other examples, better camouflage or a stronger resistance to drought might pose a selection pressure.

By chance, some individuals will have more offspring than others—not due to an advantage conferred by some genetically-encoded trait, but just because one male happened to be in the right place at the right time when the receptive female walked by or because the other one happened to be in the wrong place at the wrong time when a fox was hunting.

Figure 3. Click for a larger image. Genetic drift in a population can lead to the elimination of an allele from a population by chance. In this example, rabbits with the brown coat color allele B are dominant over rabbits with the white coat color allele b. In the first generation, the two alleles occur with equal frequency in the population, resulting in p and q values of. Only half of the individuals reproduce, resulting in a second generation with p and q values of. Only two individuals in the second generation reproduce, and by chance these individuals are homozygous dominant for brown coat color.

As a result, in the third generation the recessive b allele is lost. Small populations are more susceptible to the forces of genetic drift. Large populations, on the other hand, are buffered against the effects of chance. Figure 4. A chance event or catastrophe can reduce the genetic variability within a population. Genetic drift can also be magnified by natural events, such as a natural disaster that kills—at random—a large portion of the population.

Known as the bottleneck effect , it results in a large portion of the genome suddenly being wiped out Figure 4. In one fell swoop, the genetic structure of the survivors becomes the genetic structure of the entire population, which may be very different from the pre-disaster population. Another scenario in which populations might experience a strong influence of genetic drift is if some portion of the population leaves to start a new population in a new location or if a population gets divided by a physical barrier of some kind.

In this situation, those individuals are unlikely to be representative of the entire population, which results in the founder effect. The founder effect is believed to have been a key factor in the genetic history of the Afrikaner population of Dutch settlers in South Africa, as evidenced by mutations that are common in Afrikaners but rare in most other populations.

This is likely due to the fact that a higher-than-normal proportion of the founding colonists carried these mutations. Watch this short video to learn more about the founder and bottleneck effects.

Note that the video has no audio. Question: How do natural disasters affect the genetic structure of a population? Background: When much of a population is suddenly wiped out by an earthquake or hurricane, the individuals that survive the event are usually a random sampling of the original group. As a result, the genetic makeup of the population can change dramatically.

This phenomenon is known as the bottleneck effect. Hypothesis: Repeated natural disasters will yield different population genetic structures; therefore, each time this experiment is run, the results will vary. Test the hypothesis: Count out the original population using different colored beads.

For example, red, blue, and yellow beads might represent red, blue, and yellow individuals. After recording the number of each individual in the original population, place them all in a bottle with a narrow neck that will only allow a few beads out at a time. This represents the surviving individuals after a natural disaster kills a majority of the population. Count the number of the different colored beads in the bowl, and record it. Then, place all of the beads back in the bottle and repeat the experiment four more times.

Analyze the data: Compare the five populations that resulted from the experiment. Do the populations all contain the same number of different colored beads, or do they vary?

Remember, these populations all came from the same exact parent population. Form a conclusion: Most likely, the five resulting populations will differ quite dramatically.

This is because natural disasters are not selective—they kill and spare individuals at random. Now think about how this might affect a real population. What happens when a hurricane hits the Mississippi Gulf Coast? How do the seabirds that live on the beach fare? Figure 5. Gene flow can occur when an individual travels from one geographic location to another. Another important evolutionary force is gene flow : the flow of alleles in and out of a population due to the migration of individuals or gametes Figure 5.

While some populations are fairly stable, others experience more flux. Many plants, for example, send their pollen far and wide, by wind or by bird, to pollinate other populations of the same species some distance away.

Even a population that may initially appear to be stable, such as a pride of lions, can experience its fair share of immigration and emigration as developing males leave their mothers to seek out a new pride with genetically unrelated females.

This variable flow of individuals in and out of the group not only changes the gene structure of the population, but it can also introduce new genetic variation to populations in different geological locations and habitats. Species evolve because of the accumulation of mutations that occur over time. The appearance of new mutations is the most common way to introduce novel genotypic and phenotypic variance.

Both possibilities decrease the genetic diversity of a population. If there were no randomness in the selection , the Hardy-Weinberg theorem would not work because the population must be in equilibrium.

If there was no randomness in the selection , only the most fit of the genotypes would survive and have an exponential growth above the less fit genotypes. The alleles do not behave the same way. Do alleles behave the same way regardless of the population size? What factors can cause allele frequencies to change in a population? Clearly, allele frequencies can change over time within a single population, and frequently differ between populations.

The following discussion deals with the most important factors affecting allele frequencies: Genetic Isolation, Migration gene flow , Mutation, Natural Selection, Artificial Selection, and Chance.

How does variation occur? Genetic variation can be caused by mutation which can create entirely new alleles in a population , random mating, random fertilization, and recombination between homologous chromosomes during meiosis which reshuffles alleles within an organism's offspring.

What causes genetic drift? Genetic drift is a random process that can lead to large changes in populations over a short period of time. Random drift is caused by recurring small population sizes, severe reductions in population size called "bottlenecks" and founder events where a new population starts from a small number of individuals.

How do you know if a population is in equilibrium? To know if a population is in Hardy-Weinberg Equilibrium scientists have to observe at least two generations. If the allele frequencies are the same for both generations then the population is in Hardy-Weinberg Equilibrium.

Why genetic drift occurs in small population? In small, reproductively isolated populations, special circumstances exist that can produce rapid changes in gene frequencies totally independent of mutation and natural selection.



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