Chapter 25, Problem 16
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.
Video transcript
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?
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?
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?