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[4] B ateson, W. (1909). Mendel’s principles of heredity. Cambridge University Press, Cambridge.
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[5] M iescher is quoted in Bodmer, W. and McKie, R. (1994). The book of man. Little, Brown, London.
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[6] D awkins, R. (1995). River out of Eden. Weidenfeld and Nicolson, London.
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[7] H ayes, B. (1998). The invention of the genetic code. American Scientist 86: 8-14.
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[8] S cazzocchio, C. (1997). Alkaptonuria: from humans to moulds and back.Trends in Genetics 13: 125-7; Fernandez-Canon, J. M. and Penalva,M. A. (1995). Homogentisate dioxygenase gene cloned in Aspergillus.Proceedings of the National Academy of Sciences of the USA 92: 9132-6.
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4号染色体
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对于那些关心诸如亨廷顿舞蹈症等遗传性疾病的人来说，下面所详细列出的南希和艾丽斯·韦克斯勒（Alice Wexler）的著作是必读的。而斯蒂芬·托马斯（Stephen Thomas）的《遗传风险》（鹈鹕鸟丛书，1986）一书，是一本浅显易懂的指南。
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[1] T homas, S. (1986). Genetic risk. Pelican, London.
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[2] Gusella, J. F., McNeil, S., Persichetti, F., Srinidhi, J., Novelletto, A., Bird,E., Faber, P., Vonsattel, J. P., Myers, R. H. and MacDonald, M. E. (1996).Huntington’s disease. Cold Spring Harbor Symposia on Quantitative Biology 61: 615-26.
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[3] H untington, G. (1872). On chorea. Medical and Surgical Reporter 26
:317-21.
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[4] W exler, N. (1992). Clairvoyance and caution: repercussions from the Human Genome Project. In The code of codes (ed. D. Kevles and L.Hood), pp. 211-43. Harvard University Press.
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[5] H untington’s Disease Collaborative Research Group (1993). A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington’s disease chromosomes. Cell 72: 971-83.
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[6] Goldberg, Y. P. et al. (1996). Cleavage of huntingtin by apopain, a proapoptotic cysteine protease, is modulated by the polyglutamine tract.Nature Genetics 13: 442-9; DiFiglia, M., Sapp, E., Chase, K. O., Davies,S. W., Bates, G. P., Vonsattel, J. P. and Aronin, N. (1997). Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain. Science 277: 1990-93.
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[7] Kakizuka, A. (1998). Protein precipitation: a common etiology in neurodegenerative disorders? Trends in genetics 14: 398-402.
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[8] B at, O., Kimmel, M. and Axelrod, D. E. (1997). Computer simulation of expansions of DNA triplet repeats in the fragile-X syndrome and Huntington’s disease. Journal of Theoretical Biology 188: 53-67.
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[9] S chweitzer, J. K. and Livingston, D. M. (1997). Destabilisation of CAG trinucleotide repeat tracts by mismatch repair mutations in yeast.Human Molecular Genetics 6: 349-55.
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[10] M angiarini, L. (1997). Instability of highly expanded CAG repeats in mice transgenic for the Huntington’s disease mutation. Nature Genetics 15: 197-200; Bates, G. P., Mangiarini, L., Mahal, A. and Davies, S. W. (1997). Transgenic models of Huntington’s disease.Human Molecular Genetics 6: 1633-7.
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[11] C hong, S. S. et al. (1997). Contribution of DNA sequence and CAG size to mutation frequencies of intermediate alleles for Huntington’s disease: evidence from single sperm analyses. Human Molecular Genetics 6: 301-10.
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[12] Wexler, N. S. (1992). The Tiresias complex: Huntington’s disease as a paradigm of testing for late-onset disorders. FASEB Journal 6: 2820-25.
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[13] Wexler, A. (1995). Mapping fate. University of California Press, Los Angeles.
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5号染色体
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在搜寻基因方面，最好的一本书是威廉·库克森的《基因猎人：基因组丛林中的冒险》（奥鲁姆出版社，1994）。库克森的这本书是我搜寻哮喘基因的主要信息来源之一。
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[1] H amilton, G. (1998). Let them eat dirt. New Scientist, 18 July 1998: 26-31; Rook, G. A. W. and Stanford, J. L. (1998). Give us this day our daily germs. Immunology Today 19: 113-16.
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[2] C ookson, W. (1994). The gene hunters: adventures in the genome jungle.Aurum Press, London.
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[3] M arsh, D. G. et al. (1994). Linkage analysis of IL4 and other chromosome 5q31.1 markers and total serum immunoglobulin-E concentrations.Science 264: 1152-6.
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