What are considered significant factors in maintaining the surprisingly high levels of genetic variation in natural populations?

A botanist studying water lilies in an isolated pond observed three leaf shapes in the population: round, arrowhead, and scalloped. Marker analysis of DNA from 125 individuals showed the round-leaf plants to be homozygous for allele r1, while the plants with arrowhead leaves were homozygous for a different allele at the same locus, r2. Plants with scalloped leaves showed DNA profiles with both the r1 and r2 alleles. Frequency of the r1 allele was estimated at 0.81. If the botanist counted 20 plants with scalloped leaves in the pond, what is the inbreeding coefficient F for this population?

A farmer plants transgenic Bt corn that is genetically modified to produce its own insecticide. Of the corn borer larvae feeding on these Bt crop plants, only 10 percent survive unless they have at least one copy of the dominant resistance allele B that confers resistance to the Bt insecticide. When the farmer first plants Bt corn, the frequency of the B resistance allele in the corn borer population is 0.02. What will be the frequency of the resistance allele after one generation of corn borers have fed on Bt corn?

In an isolated population of 50 desert bighorn sheep, a mutant recessive allele c when homozygous causes curled coats in both males and females. The normal dominant allele C produces straight coats. A biologist studying these sheep counts four with curled coats. She also takes blood samples from the population for DNA analysis, which reveals that 17 of the sheep are heterozygous carriers of the c allele. What is the inbreeding coefficient F for this population?

To increase genetic diversity in the bighorn sheep population described in Problem 23, ten sheep are introduced from a population where the c allele is absent. Assuming that random mating occurs between the original and the introduced sheep, and that the c allele is selectively neutral, what will be the frequency of c in the next generation?

What genetic changes take place during speciation?

Some critics have warned that the use of gene therapy to correct genetic disorders will affect the course of human evolution. Evaluate this criticism in light of what you know about population genetics and evolution, distinguishing between somatic gene therapy and germ-line gene therapy.

List the barriers that prevent interbreeding, and give an example of each.

What are the two groups of reproductive isolating mechanisms? Which of these is regarded as more efficient, and why?

A form of dwarfism known as Ellis–van Creveld syndrome was first discovered in the late 1930s, when Richard Ellis and Simon van Creveld shared a train compartment on the way to a pediatrics meeting. In the course of conversation, they discovered that they each had a patient with this syndrome. They published a description of the syndrome in 1940. Affected individuals have a short-limbed form of dwarfism and often have defects of the lips and teeth, and polydactyly (extra fingers). The largest pedigree for the condition was reported in an Old Order Amish population in eastern Pennsylvania by Victor McKusick and his colleagues (1964). In that community, about 5 per 1000 births are affected, and in the population of 8000, the observed frequency is 2 per 1000. All affected individuals have unaffected parents, and all affected cases can trace their ancestry to Samuel King and his wife, who arrived in the area in 1774. It is known that neither King nor his wife was affected with the disorder. There are no cases of the disorder in other Amish communities, such as those in Ohio or Indiana.

From the information provided, derive the most likely mode of inheritance of this disorder. Using the Hardy–Weinberg law, calculate the frequency of the mutant allele in the population and the frequency of heterozygotes, assuming Hardy–Weinberg conditions.

A form of dwarfism known as Ellis–van Creveld syndrome was first discovered in the late 1930s, when Richard Ellis and Simon van Creveld shared a train compartment on the way to a pediatrics meeting. In the course of conversation, they discovered that they each had a patient with this syndrome. They published a description of the syndrome in 1940. Affected individuals have a short-limbed form of dwarfism and often have defects of the lips and teeth, and polydactyly (extra fingers). The largest pedigree for the condition was reported in an Old Order Amish population in eastern Pennsylvania by Victor McKusick and his colleagues (1964). In that community, about 5 per 1000 births are affected, and in the population of 8000, the observed frequency is 2 per 1000. All affected individuals have unaffected parents, and all affected cases can trace their ancestry to Samuel King and his wife, who arrived in the area in 1774. It is known that neither King nor his wife was affected with the disorder. There are no cases of the disorder in other Amish communities, such as those in Ohio or Indiana.

What is the most likely explanation for the high frequency of the disorder in the Pennsylvania Amish community and its absence in other Amish communities?

The original source of new alleles, upon which selection operates, is mutation, a random event that occurs without regard to selectional value in the organism. Although many model organisms have been used to study mutational events in populations, some investigators have developed abiotic molecular models. Soll et al. (2006. Genetics 175: 267-275) examined one such model to study the relationship between both deleterious and advantageous mutations and population size in a ligase molecule composed of RNA (a ribozyme). Soll found that the smaller the population of molecules, the more likely it was that not only deleterious mutations but also advantageous mutations would disappear. Why would population size influence the survival of both types of mutations (deleterious and advantageous) in populations?

A number of comparisons of nucleotide sequences among hominids and rodents indicate that inbreeding may have occurred more often in hominid than in rodent ancestry. Bakewell et al. (2007. Proc. Nat. Acad. Sci. [USA] 104: 7489-7494) suggest that an ancient population bottleneck that left approximately 10,000 humans might have caused early humans to have a greater chance of genetic disease. Why would a population bottleneck influence the frequency of genetic disease?

Shown below are two homologous lengths of the alpha and beta chains of human hemoglobin. Consult a genetic code dictionary, and determine how many amino acid substitutions may have occurred as a result of a single nucleotide substitution. For any that cannot occur as a result of a single change, determine the minimal mutational distance.

Alpha: ala val ala his val asp asp met pro

Beta: gly leu ala his leu asp asn leu lys

Recent reconstructions of evolutionary history are often dependent on assigning divergence in terms of changes in amino acid or nucleotide sequences. For example, a comparison of cytochrome c shows 10 amino acid differences between humans and dogs, 24 differences between humans and moths, and 38 differences between humans and yeast. Such data provide no information as to the absolute times of divergence for humans, dogs, moths, and yeast. How might one calibrate the molecular clock to an absolute time clock? What problems might one encounter in such a calibration?