How do we know how much genetic variation is in a population?

How do geneticists detect the presence of genetic variation as different alleles in a population?

How do we know whether the genetic structure of a population is static or dynamic?

How do we know when populations have diverged to the point that they form two different species?

How do we know the age of the last common ancestor shared by two species?

Write a short essay describing the roles of mutation, migration, and selection in bringing about speciation.

Price et al. [(1999). J. Bacteriol. 181:2358–2362] conducted a genetic study of the toxin transport protein (PA) of Bacillus anthracis, the bacterium that causes anthrax in humans. Within the 2294-nucleotide gene in 26 strains they identified five point mutations—two missense and three synonyms—among different isolates. Necropsy samples from an anthrax outbreak in 1979 revealed a novel missense mutation and five unique nucleotide changes among ten victims. The authors concluded that these data indicate little or no horizontal transfer between different B. anthracis strains.

Which types of nucleotide changes (missense or synonyms) cause amino acid changes?

Price et al. [(1999). J. Bacteriol. 181:2358–2362] conducted a genetic study of the toxin transport protein (PA) of Bacillus anthracis, the bacterium that causes anthrax in humans. Within the 2294-nucleotide gene in 26 strains they identified five point mutations—two missense and three synonyms—among different isolates. Necropsy samples from an anthrax outbreak in 1979 revealed a novel missense mutation and five unique nucleotide changes among ten victims. The authors concluded that these data indicate little or no horizontal transfer between different B. anthracis strains.

What is meant by 'horizontal transfer'?

Price et al. [(1999). J. Bacteriol. 181:2358–2362] conducted a genetic study of the toxin transport protein (PA) of Bacillus anthracis, the bacterium that causes anthrax in humans. Within the 2294-nucleotide gene in 26 strains they identified five point mutations—two missense and three synonyms—among different isolates. Necropsy samples from an anthrax outbreak in 1979 revealed a novel missense mutation and five unique nucleotide changes among ten victims. The authors concluded that these data indicate little or no horizontal transfer between different B. anthracis strains.

On what basis did the authors conclude that evidence of horizontal transfer is absent from their data?

The genetic difference between two Drosophila species, D. heteroneura and D. silvestris, as measured by nucleotide diversity, is about 1.8 percent. The difference between chimpanzees (Pan troglodytes) and humans (H. sapiens) is about the same, yet the latter species is classified in a different genera. In your opinion, is this valid? Explain why.

The use of nucleotide sequence data to measure genetic variability is complicated by the fact that the genes of many eukaryotes are complex in organization and contain 5' and 3' flanking regions as well as introns. Researchers have compared the nucleotide sequence of two cloned alleles of the γ-globin gene from a single individual and found a variation of 1 percent. Those differences include 13 substitutions of one nucleotide for another and three short DNA segments that have been inserted in one allele or deleted in the other. None of the changes takes place in the gene's exons (coding regions). Why do you think this is so, and should it change our concept of genetic variation?

Consider rare disorders in a population caused by an autosomal recessive mutation. From the frequencies of the disorder in the population given, calculate the percentage of heterozygous carriers:

0.0064

Consider rare disorders in a population caused by an autosomal recessive mutation. From the frequencies of the disorder in the population given, calculate the percentage of heterozygous carriers:

0.000081

Consider rare disorders in a population caused by an autosomal recessive mutation. From the frequencies of the disorder in the population given, calculate the percentage of heterozygous carriers:

0.09

Consider rare disorders in a population caused by an autosomal recessive mutation. From the frequencies of the disorder in the population given, calculate the percentage of heterozygous carriers:

0.01

Consider rare disorders in a population caused by an autosomal recessive mutation. From the frequencies of the disorder in the population given, calculate the percentage of heterozygous carriers:

0.10

What must be assumed in order to validate the answers in Problem 7?

In a population where only the total number of individuals with the dominant phenotype is known, how can you calculate the percentage of carriers and homozygous recessives?

If 4 percent of a population in equilibrium expresses a recessive trait, what is the probability that the offspring of two individuals who do not express the trait will express it?

Consider a population in which the frequency of allele A is p=0.7 and the frequency of allele a is q=0.3 and where the alleles are codominant. What will be the allele frequencies after one generation if the following occurs?

wAA=1, wAa=0.9, waa=0.8

Consider a population in which the frequency of allele A is p = 0.7 and the frequency of allele a is q = 0.3 and where the alleles are codominant. What will be the allele frequencies after one generation if the following occurs?

w_AA = 1, w_Aa = 0.95, w_aa = 0.9

Consider a population in which the frequency of allele A is p = 0.7 and the frequency of allele a is q = 0.3 and where the alleles are codominant. What will be the allele frequencies after one generation if the following occurs?

w_AA = 1, w_Aa = 0.99, w_aa = 0.98

Consider a population in which the frequency of allele A is p = 0.7 and the frequency of allele a is q = 0.3 and where the alleles are codominant. What will be the allele frequencies after one generation if the following occurs?

w_AA = 0.8, w_Aa = 1, w_aa = 0.8

If the initial allele frequencies are p = 0.5 and q = 0.5 and allele a is a lethal recessive, what will be the frequencies after 1, 5, 10, 25, 100, and 1000 generations?

Under what circumstances might a lethal dominant allele persist in a population?

Assume that a recessive autosomal disorder occurs in 1 of 10,000 individuals (0.0001) in the general population and that in this population about 2 percent (0.02) of the individuals are carriers for the disorder. Estimate the probability of this disorder occurring in the offspring of a marriage between first cousins. Compare this probability to the population at large.

One of the first Mendelian traits identified in humans was a dominant condition known as brachydactyly. This gene causes an abnormal shortening of the fingers or toes (or both). At the time, some researchers thought that the dominant trait would spread until 75 percent of the population would be affected (because the phenotypic ratio of dominant to recessive is 3 : 1). Show that the reasoning was incorrect.

Describe how populations with substantial genetic differences can form. What is the role of natural selection?

Achondroplasia is a dominant trait that causes a characteristic form of dwarfism. In a survey of 50,000 births, five infants with achondroplasia were identified. Three of the affected infants had affected parents, while two had normal parents. Calculate the mutation rate for achondroplasia and express the rate as the number of mutant genes per given number of gametes.

A recent study examining the mutation rates of 5669 mammalian genes (17,208 sequences) indicates that, contrary to popular belief, mutation rates among lineages with vastly different generation lengths and physiological attributes are remarkably constant [Kumar, S., and Subramanian, S. (2002). Proc. Natl. Acad. Sci. USA 99:803–808]. The average rate is estimated at 12.2×10⁻⁹ per bp per year. What is the significance of this finding in terms of mammalian evolution?