|
參考文獻 Aaltonen, L.A., Peltomaki, P., Leach, F.S., Sistonen, P., Pylkkanen, L., Mecklin, J-P., Jarvinen, H., Powell, S., Jen, J., Hamilton, S. R., Petersen, G.M., Kinzler, K.W., Vogelstein, B., and de la Chapelle, A. Clues to the pathogenesis of familial colorectal cancer. Science 260:812-816, 1993. Antonarakis, S.E.10 years of Genomics, chromosome 21, and Down syndrome. Genomics 51(1):1-16, 1998. Baxevanis, A.D., Francis Ouellette, B.F. Bioinformatics: a practical guide to the analysis of gene and proteines. Wiley-Interscience. 1998. Bailey, A.D. Pavelitz, T., Weiner, A.M. The microsatellite sequence (CT)n x (GA)n promotes stable chromosomal integration of large tandem arrays of functional human U2 small nuclear RNA genes. Molecular & Cellular Biology 18(4):2262-71, 1998. Benitez, J., Osorio, A., Barroso, A., Arranz, E., Diaz-Guillen, M.A., Robledo, M. Rodriguez de Cordoba, S., Heine-Suner, D. A region of allelic imbalance in 1q31-32 in primary breast cancer coincides with a recombination hot spot. Cancer Research 57(19):4217-20, 1997. Benson, D.A., Boguski, M., Lipman, D.J., and Ostell, J. Genbank. Nucleic Acids Research 22(17)3441-3444, 1994. Bosch A. Wiemann S. Guimera J. Ansorge W. Patterson D. Estivill X. Five new microsatellite polymorphisms at the q21 region of human chromosome. Human Genetics 95(1):119-22, 1995. Brass, A. Bioinformatics and education. The Biochemist 19(5):4-8, 1997. Britten, R.J., Kohne, D.E. Repeated sequences in DNA. Hundreds of thousands of copies of DNA sequences have been incorporated into the genomes of higher organisms. Science 161(841):529-40, 1968. Callen DF. Thompson AD. Shen Y. Phillips HA. Richards RI. Mulley JC. Sutherland GR. Incidence and origin of "null" alleles in the (AC)n microsatellite markers. American Journal of Human Genetics 52(5):922-7, 1993. Campuzano, V., and Montermini, L., Molto, M.D., Pianese, L., Cossee, M., Cavalcanti, F., Monros, E., Rodius, F., Duclos, F., Monticelli, A., Zara, F., Canizares, J., Koutnikova, H., Bidichandani, S.I., Gellera, C., Brice, A., Troullas, P., DE Michele, G., Filla, A., De Frutos, R., Palau, F.,Patel, P.I., DI Donato, S., Mandel, J.-L., Cocozza, S., Koenig, M. and Pandolfo, M. Friedreich’s ataxia: autosomal Recessive disease caused by an intronic GAA triplet repeat expansion. Science 271:1423~1427, 1996. Chen, T.L., Manuelidis, L. SINEs and LINEs cluster in distinct DNA fragments of Giemsa band size. Chromosoma 98(5):309-16, 1989. Chung, U.C., Drug Resistance on Microsatellite Vectors. National Cheng Kung Universiy. M.S.Dissertation, 1995. Deka, R., Shriver, M.D., Yu, L.M. Jin, L. Aston, C.E., Chakraborty, R., Ferrell, R.E. Conservation of human chromosome 13 polymorphic microsatellite (CA)n repeats in chimpanzees. Genomics 22(1):226-30, 1994. Deverux, J., Haeberli, P., and Smithies, O. A comprehensive set of sequence analysis programs for the VAX. Nucleic Acid Research. 12(1):387-398, 1984. Dillon, E.K., de Boer, W.B., Papadimitriou, J.M., Turbett, G.R. Microsatellite instability and loss of heterozygosity in mammary carcinoma and its probable precursors. British Journal of Cancer 76(2):156-62, 1997. Dutreix, M. (GT)n repetitive tracts affect several stages of RecA-promoted recombination. Journal of Molecular Biology 273:105-113,1997. Epplen, J.T., Buitkamp, J. Bocker, T., Epplen, C. Indirect gene diagnoses for complex (multifactorial) diseases. Gene 159(1):49-55, 1995. Fields, C., Adams, M.D., White, O., Venter, J.C. How many genes in the human genome? Nature Genetics 7(3):345-6, 1994. Filipski, J., Leblanc, J., Youdale, T., Sikorska, M., Walker, P.R. Periodicity of DNA folding in higher order chromatin structures. EMBO Journal 9(4):1319-27, 1990 . Gilks, W.R., Richardson, S., and Spiegelhalter, D.J. Markov Chain Monte Carlo in Practice. Chapman & Hall. 1996. Gronskov K. Hjalgrim H. Bjerager MO. Brondum-Nielsen K. Deletion of all CGG repeats plus flanking sequences in FMR1 does not abolish gene expression. American Journal of Human Genetics 61(4):961-7, 1997. Hammer, M.F., Spurdle, A.B., Karafet, T., Bonner, M.R., Wood, E.T., Novelletto, A., Malaspina, P., Mitchell, R.J., Horai, S., Jenkins, T., and Zegura, S,L. The geographic distribution of human Y chromosome variation. Genetics 145:787-805 1997. Handerson, E., Hardin, C.C., Walk, S.K., Tinoco, Jr I. and Blackburn, E.H.,Telomeric DNA oligonucleotide form novel intramolecular structures containing guanine.guanine base pairs. Cell 51:899-908,1987. Hazan, J., Dubay, C., Pankowiak, M.P., Becuwe, N., and Weissenbach, J.A. Genetics linkage map of chromosome 20 composed entirely of microsatellite markers. Genomics 12:183-189,1992. Herman, J.G., Umar, A., Polyak, K., Graff, J.R., Ahuja, N., Issa, J.P., Markowitz, S., Willson, J.K., Hamilton, S.R., Kinzler, K.W., Kane, M.F., Kolodner, R.D., Vogelstein, B., Kunkel, T.A., Baylin, S.B. Incidence and functional consequences of hMLH1 promoter hypermethylation in colorectal carcinoma. Proceedings of the National Academy of Sciences of the United States of America 95(12):6870-5, 1998. Hino, O., Testa, J.R., Buetow, K.H., Taguchi, T., Zhou, J.Y., Bremer, M., Bruzel, A. Yeung, R., Levan, G., Levan, K.K., et al. Universal mapping probes and the origin of human chromosome 3. Proceedings of the National Academy of Sciences of the United States of America 90(2):730-4, 1993. Jeffreys, A.J., Wilson, V., and Thein, S.L. Hypervariable ‘minisatellite’ region in human DNA. Nature 314(7):67-73,1985. Jeffreys, A.J. Spontaneous and induced minisatellite instability in the human genome. [Review] Clinical Science 93(5):383-90, 1997 Nov. Jelinek, W.R., Toomey, T.P., Leinwand, L., Duncan, C.H., Biro, P.A., Choudary, P.V., Weissman, S.M., Rubin, C.M., Houck, C.M., Deininger, P.L., Schmid, C.W. Ubiquitous, interspersed repeated sequences in mammalian genomes. Proceedings of the National Academy of Sciences of the United States of America 77(3):1398-402, 1980. Jorde, L.B., Rogers, A.R., Bamshad, M., Watkins, W.S., Krakowiak, P., Sung, S., Kere, J., and Harpending, H.C. Microsatellite diversity and the demographic history of modern humans. Proceedings of the National Academy of Sciences of the United States of America 94:3100-3103, 1997. Kalpazidou. S.L. Cycle Representations of Markov Processes.Springer-Verlag. 1994. Korenberg, J.R., Rykowski, M.C. Human genome organization: Alu, lines, and the molecular structure of metaphase chromosome bands. Cell 53(3):391-400, 1988. Korenberg, J.R., Bradley, C., Disteche, C.M. Down syndrome: molecular mapping of the congenital heart disease and duodenal stenosis. American Journal of Human Genetics 50(2):294-302, 1992. Korenberg, J.R., Chen, X.N., Schipper, R., Sun, Z., Gonsky, R., Gerwehr, S., Carpenter, N., Daumer, C., Dignan, P., Disteche, C., et al. Down syndrome phenotypes: the consequences of chromosomal imbalance. Proceedings of the National Academy of Sciences of the United States of America 91(11):4997-5001, 1994. Korvatska. E., Munier, F.L., Djemai, A., Wang, M.X., Frueh, B., Chiou, A.G. Uffer, S., Ballestrazzi, E., Braunstein, R.E., Forster, R.K., Culbertson, W.W., Boman, H., Zografos, L., Schorderet, D.F. Mutation hot spots in 5q31-linked corneal dystrophies. American Journal of Human Genetics 62(2):320-4, 1998. Kruglyak, S. Durrett, R.T., Schug, M.D., Aquadro, C.F. Equilibrium distributions of microsatellite repeat length resulting from a balance between slippage events and point mutations. Proceedings of the National Academy of Sciences of the United States of America 95(18):10774-8, 1998. Lai, J.H. Construction of microsatellite vectors cotaining Thermus aquaticus DNA polymerase gene. National Cheng Kung Universiy. M.S.Dissertation, 1995. Lanzaro, G.C., Toure, Y.T., Carnahan, J., Zheng, L., Dolo, G., Traore, S., Petrarca, V., Vernick, K.D., Taylor, C.E. Complexities in the genetic structure of Anopheles gambiae populations in west Africa as revealed by microsatellite DNA analysis. Proceedings of the National Academy of Sciences of the United States of America 95(24):14260-5, 1998. Levinson, G., and Gutman, G.A. High frequencies of short frameshifts in poly-CA/TG tandem repeats borne by bacteriophage M13 in Escherichia coli K-12. Nucleic Acid Research 15(13):5323-5338, 1987. Li, W.H. Molecular Evolution. Sinauer, Sunderland, MA. 1997. Lim, P.C., Tester, D., Cliby, W., Ziesmer, S.C., Roche, P.C., Hartmann, L., Thibodeau, S.N., Podratz, K.C., Jenkins, R.B. Absence of mutations in DNA mismatch repair genes in sporadic endometrial tumors with microsatellite instability. Clinical Cancer Research 2(11):1907-11, 1996. Litt, M., Luty, J.A. A hypervariable microsatellite revealed by in vitro amplification of a dinucleotide repeat within the cardiac muscle actin gene. American Journal of Human Genetics 44(3):397-401, 1989. Liu, B., Parsons, R., Papadopoulos, N., Nicolaides, N.C., Lynch, H.T., Watson, P., Jass, J.R., Dunlop, M., Wyllie, A., Peltomaki, P., de la Chapelle, A., Hamilton, S.R., Vogelstein, B., Kinzler, K.W. Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients. Nature Medicine 2(2):169-74, 1996. Maroof, M.A.,S., Biyashev, R.M., Yan, G.P., Zhang, Q., and Allard, R.W. Extraordinarily polymorphic microsatellite DNA in barley : species diversity chromosome locations and population dynamics. Proceedings of the National Academy of Sciences of the United States of America 91:5466-5470,1994. Mitas, M. Trinucleotide repeats associated with human disease. Nucleic Acid Research 25: 2245~2253,1997. Murray, J.C., Buetow, K.H., Weber, J.L., Ludwigsen, S., Scherpbier-Heddema, T., Manion, F., Quillen, J., Sheffield, V.C., Sunden, S., Duyk, G.M., et al. A comprehensive human linkage map with centimorgan density. Cooperative Human Linkage Center (CHLC). Science 265(5181):2049-54, 1994. Nadir, E., Margalit, H., Gallily, T., and Ben-Sasson, S.A. Microsatellite spreading in the human genome: Evolutionary mechanisms and structural implications. Proceedings of the National Academy of Sciences of the United States of America 93:6740-6475,1996. Nowak, R. Mining treasures from 'junk DNA' . Science 263(5147):608-10, 1994. Orgel, L.E.,. Crick, F.H., Sapienza, C., Selfish DNA. Nature 288(5792):645-6, 1980. Ornstein, R.L., Rein, R., Breen, D. L., and MacElroy, R.D. An optential function for the calculation of nucleic acid interaction energies:I,Base stacking. Biopolymers 17:2341-2360, 1978. Peris, K., Onorati, M.T., Keller, G., Magrini, F., Donati, P., Muscardin, L., Hofler, H., Chimenti, S. Widespread microsatellite instability in sebaceous tumours of patients with the Muir-Torre syndrome. British Journal of Dermatology 137(3):356-60, 1997. Petes, T.D., Fink, G.R. Gene conversion between repeated genes. Nature 300(5889):216-7, 1982. Petes, T.D., Greenwell, P.W., and Dominska, M. Stabilization of microsatellite sequences by variant repeats in the yeast Saccharomyces cerevisiae. Genetics 146:491-498,1997. Rahmani, Z., Blouin, J.L., Creau-Goldberg, N., Watkins, P.C., Mattei, J.F., Poissonnier, M., Prieur, M., Chettouh, Z., Nicole, A., Aurias, A. et al. Critical role of the D21S55 region on chromosome 21 in the pathogenesis of Down syndrome. Proceedings of the National Academy of Sciences of the United States of America 86(15):5958-62, 1989. Ramel. C. Mini- and microsatellites. Environmental Health Perspectives 4:781-9, 1997. Rice, C.M., Fuchs, R., Higgins, D.G., Stoehr, P.J., and Cameron, G.N. The EMBL data library. Nucleic Acids Research 21(13): 2967-2971,1993. Richards, R.I., Sutherland, G.R., Dynamic mutation: possible mechanisms and significance in human disease. [Review] Trends in Biochemical Sciences 22(11):432-6, 1997. Rithidech, K.N., Dunn, J.J., Gordon, C.R. Combining multiplex and touchdown PCR to screen murine microsatellite polymorphisms. Biotechniques 23(1):36, 40, 42, 44, 1997. Rosenblatt, M. Markov Processes.Structure and Asymptotic Behavior. Springer-Verlag. 1971. Ruschoff, J., Bocker, T., Schlegel, J., Stumm, G., and Hofstaedter, F. Microsatellite instability: new aspects in the carcinogenesis of colorectal carcinoma. Virchows Archiv 426:215-222 1995. Ruschoff, J., Wallinger, S., Dietmaier, W., Bocker, T., Brockhoff, G. Hofstadter, F., Fishel, R. Aspirin suppresses the mutator phenotype associated with hereditary nonpolyposis colorectal cancer by genetic selection. Proceedings of the National Academy of Sciences of the United States of America 95(19):11301-6, 1998. Sanchez-Cespedes, M., Rosell, R., Pifarre, A., Lopez-Cabrerizo, M.P., Barnadas, A., Sanchez, J.J., Lorenzo, J.C., Abad, A., Monzo, M., Navas-Palacios, J.J. Microsatellite alterations at 5q21, 11p13, and 11p15.5 do not predict survival in non-small cell lung cancer. Clinical Cancer Research 3(7):1229-35, 1997. Sawada, I., Schmid, L. W., Deka, N., Paulson, K.E. and Willard, C. Repetitive human DNA sequence. Cold Spring Harbor Symposia on Quantitative Biology 51:471-477, 1986. Schuler, G.D., Boguski, M.S., Stewart, E.A., Stein, L.D., Gyapay, G., Rice, K., White, R.E., Rodriguez-Tome, P., Aggarwal, A., Bajorek, E., Bentolila, S., Birren, B.B., Butler, A., Castle, A.B., Chiannilkulchai, N., Chu, A., Clee, C., Cowles, S., Day, P.J., Dibling, T., Drouot, N., Dunham, I. Duprat, S., East, C., Hudson, T.J., et al. A gene map of the human genome. Science 274(5287):540-6, 1996. Serikawa, T., Kuramoto, T., Hillbert, P., Mori, M., Yamada, J., Dubay, C.J., Lindpainter, K., Ganten, D., Guenet, J., Lathrop, G.M., and Beckmann, J.S. Rat gene mapping using PCR-analyzed microsatellite. Genetics 131:701-721,1992. Sia, E.A., Kokoska, R.J., Dominska, M., Greenwell, P., Petes, T.D. Microsatellite instability in yeast: dependence on repeat unit size and DNA mismatch repair genes. Molecular & Cellular Biology 17(5):2851-8, 1997. Singer MF. SINEs and LINEs: highly repeated short and long interspersed sequences in mammalian genomes. Cell 28(3):433-4, 1982. Smith GP. Evolution of repeated DNA sequences by unequal crossover. Science 191(4227):528-35, 1976. Southern, E.M., Long range periodicities in mouse satellite DNA. Journal of Molecular Biology 94(1):51-69, 1975. Stallings, R.L., Ford, A.F., Nelson, D., Torney, D.C., Hildebrand, C.E., and Moyzis, R.K. Evolution and distribution of (GT)n repetitive sequences in mammalian genomes. Genomics 10:807-815,1991. Stallings, R.L. Conservation and evolution of (CT)n/(GA)n microsatellite sequences at orthologous positions in diverse mammalian genomes. Genomics 25: 107-113,1995. Stoesser, G., Sterk, P., Tuli, M.A., Stoehr, P.J., and Cameron, G.N. The EMBL nucleotide sequence database. Nucleic Acid Research 25(1):7-13, 1997. Strand, M., Prolla, T.A., Liskay, R.M., and Petes, T.D. Destabilization of tracts of simple repetitive DNA in yeast by mutations affecting DNA mismatch repair. Nature 365:274-276, 1993. Strauss, B.S., Sagher, D. Acharya, S. Role of proofreading and mismatch repair in maintaining the stability of nucleotide repeats in DNA. Nucleic Acids Research 25(4):806-13, 1997. Streisinger, G., Okada, Y., Emrich, J., Newton, J., Tsugita, A., Terzaghi, E., Inouye, M. Frameshift mutations and the genetic code. This paper is dedicated to Professor Theodosius Dobzhansky on the occasion of his 66th birthday. Cold Spring Harbor Symposia on Quantitative Biology 31:77-84, 1966. Sutherland, G.R., and Richards, R.I. Simple tandem DNA repeats and human genetic disease. Proceedings of the National Academy of Sciences of the United States of America 92: 3636~3641, 1995. Tassone, F., Xu, H. Burkin, H. Weissman, S. Gardiner, K. cDNA selection from 10 Mb of chromosome 21 DNA: efficiency in transcriptional mapping and reflections of genome organization. Human Molecular Genetics 4(9):1509-18, 1995 Sep. Tateno, Y., and Gojobori, T. DNA Data Bank of Japan in the age of information biology. Nucleic Acid Research 25(1):14-17,1997. Thibodeau, S.N., Bren, G., and Schaid, D. Microsatellite instability in cancer of the Proximal Colon. Science 260:816-819, 1993. Thompson, M.A. Flegg, R., Westin, E.H., Ramsay, R.G. Microsatellite deletions in the c-myb transcriptional attenuator region associated with over-expression in colon tumour cell lines. Oncogene 14 (14):1715-23, 1997. Timchenko, L.T., and Caskey C. T. Trinucleotide repeat disorders in human: discussions of mechanisms and medical issues. FASEB Journal 10:1589~1597,1996. Troyer, D., Alexander, L., Kirby-Dobbels, K.,Rohrer, G.A., and Beattie C.W. An unassigned porcine microsatellite linkage group maps to Chromosome 6. Mammalian Genome 7:224-225,1996. Ullu, E., Tschudi, C. Alu sequences are processed 7SL RNA genes. Nature 312(5990):171-2, 1984. Weber JL. May PEAbundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. American Journal of Human Genetics 44(3):388-96, 1989. Yandava, C.N., Gastier, J.M., Pulido, J.C., Brody, T., Sheffield, V., Murray, J. Buetow, K., Duyk, G.M. Characterization of Alu repeats that are associated with trinucleotide and tetranucleotide repeat microsatellites. Genome Research 7(7):716-24, 1997. Yao, J., Eu, K.W., Seow-Choen, F., Vijayan, V., Cheah, P.Y. Microsatellite instability and aneuploidy rate in young colorectal-cancer patients do not differ significantly from those in older patients. International Journal of Cancer 80(5):667-70, 1999. Yu, J., Tong, S. Shen, Y., Kao, F.T. Gene identification and DNA sequence analysis in the GC-poor 20 megabase region of human chromosome 21. Proceedings of the National Academy of Sciences of the United States of America 94(13):
|