19. Draw a pedigree that represent an autosomal dominant trait, sex-limited to males, and that excludes the possibility that the trait is Y linked.
20. Androgen insensitivity syndrome is a rare disorder of sexual development, in which people with an XY karyotype, genetically male, develop external female features. All persons with androgen insensitivity syndrome are infertile. In the past, some researchers proposed that androgen insensitivity syndrome is inherited as a sex-limited, autosomal dominant trait. (It is sex-limited because females cannot express the trait.) Other investigators suggested that this disorder is inherited as a X-linked recessive trait.
Draw a pedigree that would show conclusively that androgen insensitivity syndrome is inherited as an X-linked recessive trait and that excludes the possibility that it is sex-limited, autosomal dominant. If you believe that no pedigree can conclusively differentiate between the two choices (sex-limited, X-linked recessive and sex-limited, autosomal dominant), explain why. Remember that all affected persons are infertile.
Barsh, G. S., I. S. Farooqi, and S. O'Rahilly. 2000. Genetics of body-weight regulation. Nature 404:644 - 651. An excellent review of the genetics of body weight in humans. This issue of Nature has a section on obesity, with additional review articles on obesity as a medical problem, on the molecular basis of thermogenesis, on nervous-system control of food intake, and medical strategies for treatment of obesity. Bennett, R. L., K. A. Steinhaus, S. B. Uhrich, C. K. O'Sullivan, R. G. Resta, D. Lochner-Doyle, D. S. Markel, V. Vincent, and J. Hamanishi. 1995. Recommendations for standardized human pedigree nomenclature. American Journal of Human Genetics 56:745-752.
Contains recommendations for standardized symbols used in pedigree construction.
Brown, M. S., and J. L. Goldstein. 1984. How LDL receptors influence cholesterol and atherosclerosis. Scientific American 251 November: 58-66.
Excellent review of the genetics of atherosclerosis by two scientists who received the Nobel Prize for their research on atherosclerosis.
Devor, E. J., and C. R. Cloninger. 1990. Genetics of alcoholism. Annual Review of Genetics 23:19-36.
A good review of how genes influence alcoholism in humans.
Gurney, M. E., A. G. Tomasselli, and R. L. Heinrikson. 2000. Stay the executioner's hand. Science 288:283-284. Reports new evidence that mutated SOD1 may be implicated in apoptosis (programmed cell death) in people with amyotrophic lateral sclerosis.
Harper, P. S. 1998. Practical Genetic Counseling, 5th ed. Oxford: Butterworth Heineman. A classic textbook on genetic counseling.
Jorde, L. B., J. C. Carey, M. J. Bamshad, and R. L. White. 1998. Medical Genetics, 2d ed. St. Louis: Mosby. A textbook on medical aspects of human genetics.
Lewis, R. 1994. The evolution of a classical genetic tool. Bioscience 44:722-726.
A well-written review of the history of pedigree analysis and recent changes in symbols that have been necessitated by changing life styles and new reproductive technologies.
Mange, E. J., and A. P. Mange. 1998. Basic Human Genetics, 2d ed. Sunderland, MA: Sinauer. A well-written textbook on human genetics. MacGregor, A. J., H. Snieder, N. J. Schork, and T. D. Spector. 2000. Twins: novel uses to study complex traits and genetic diseases. Trends in Genetics 16:131-134. A discussion of new methods for using twins in the study of genes.
Mahowald, M. B., M. S. Verp, and R. R. Anderson. 1998. Genetic counseling: clinical and ethical challenges. Annual Review of Genetics 32:547-559.
A review of genetic counseling in light of the Human Genome Project, with special consideration of the role of nondirected counseling.
McKusick, V. A. 1998. Mendelian Inheritance in Man: A Catalog of Human Genes and Genetic Disorders, 12th ed. Baltimore: Johns Hopkins University Press.
A comprehensive catalog of all known simple human genetic disorders and the genes responsible for them. Pierce, B. A. 1990. The Family Genetic Source Book. New York: Wiley.
A book on human genetics written for the layperson; contains a catalog of more than 100 human genetic traits.
Stunkard, A. J., T. I. Sorensen, C. Hanis, T. W. Teasdale, R. Chakraborty, W. J. Schull, and F. Schulsinger. 1986. An adoption study of human obesity. The New England Journal of Medicine 314:193-198.
Describes the Danish adoption study of obesity.
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