Summary
A recombinant human DNA library was constructed using pUC 18 as the cloning vector. Plasmid DNA isolated from a small scale culture was used as the hybridization probe; many recombinant clones could be easily tested for their ability to detect restriction fragment length polymorphisms (RFLPs). Forty-five arbitrary single copy DNA fragments were isolated from this library and five clones revealed RFLPs. Probe OS-5 had three alleles and probe OS-7, which detected insertion/deletion polymorphisms, had several alleles.
Apart from these clones, two polymorphic DNA fragments were isolated from the pBR322 plasmid library and another two from the Charon 4A phage library. Although only four restriction enzymes were employed to detect polymorphisms, the efficiency of detecting polymorphisms was reasonable.
These nine clones will serve as useful markers for linkage studies.
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Balazs, I., Purrello, M., Alhadeff, B., Grzeschik, K.-H., and Szabo, P. 1984. Isolation and subregional mapping of a human cDNA clone detecting a common RFLP on chromosome 12.Hum. Genet. 68: 57–61.
Barker, D., Schäfer, M., and White, R. 1984. Restriction sites containing CpG show a higher frequency of polymorphism in human DNA.Cell 36: 131–138.
Bell, G.I., Karam, J.H., and Rutter, W.J. 1981. Polymorphic DNA region adjacent to the 5′ end of the human insulin gene.Proc. Natl. Acad. Sci. USA 78: 5759–5763.
Botstein, D., White, R.L., Skolnick, M., and Davis, R.W. 1980. Construction of a genetic linkage map in man using restriction fragment length polymorphisms.Am. J. Hum. Genet. 32: 314–331.
Cavenee, W., Leach, R., Mohandas, T., Pearson, P., and White, R. 1984. Isolation and regional localization of DNA segments revealing polymorphic loci from human chromosome 13.Am. J. Hum. Genet. 36: 10–24.
Cooper, D.N. 1983. Eukaryotic DNA methylation.Hum. Genet. 64: 315–333.
Cooper, D.N., Smith, B.A., Cooke, H.J., Niemann, S., and Schmidtke, J. 1985. An estimate of unique DNA sequence heterozygosity in the human genome.Hum. Genet. 69: 201–205.
de Martinville, B., Schäfer, M., White, R., and Francke, V. 1983. Chromosomal assignment of three random RFLP loci defined by base-pair changes inMspI sites.Mol. Biol. Med. 1: 415–424.
Feder, J., Yen, L., Wijsman, E., Wang, L., Wilkins, L., Schroder, J., Spurr, N., Cann, H., Blumenberg, M., and Cavalli-Sforza, L.L. 1985. A systematic approach for detecting high-frequency restriction fragment length polymorphism using large genomic probes.Am. J. Hum. Genet. 37: 635–649.
Goldfarb, M., Shimizu, S., Perucho, M., and Wigler, M. 1982. Isolation and preliminary characterization of a human transforming gene from T24 bladder carcinoma cells.Nature 296: 404–409.
Gusella, J.F., Wexler, N.S., Conneally, P.M., Naylor, S.L., Anderson, M.A., Tauzi, R.E., Watkins, P.C., Ottina, K., Wallace, M.R., Sakaguchi, A.Y., Young, A.B., Shoulson, I., Bonilla, E., and Martin, J.B. 1983. A polymorphic DNA marker genetically linked to Huntington's disease.Nature 306: 234–238.
Hanahan, D. and Meselson, M. 1980. Plasmid screening at high colony density.Gene 10: 63–67.
Harper, M.E. and Saunders, G.F. 1981. Localization of single copy DNA sequences on G-banded human chromosomes byin situ hybridization.Chromosoma 83: 431–439.
Helentjaris, T. and Gesteland, R. 1983. Evaluation of random cDNA clones as probes for human restriction fragment length polymorphisms.J. Mol. Appl. Genet. 2: 237–247.
Knowlton, R.G., Cohen-Haguenauer, O., Van Cong, N., Frézal, J., Brown, V.A., Barker, D., Braman, J.C., Schumm, J.W., Tsui, L.-C., Buchwald, M., and Donis-Keller, H. 1985. A polymorphic DNA marker linked to cystic fibrosis is located on chromosome 7.Nature 318: 380–382.
Litt, M. and White, R.L. 1985. A highly polymorphic locus in human DNA revealed by cosmidderived probes.Proc. Natl. Acad. Sci. USA 82: 6206–6210.
Naylor, S.L., Sakaguchi, A.Y., Barker, D., White, R., and Shows, T.B. 1984. DNA polymorphic loci mapped to human chromosomes 3, 5, 9, 11, 17, 18, and 22.Proc. Natl. Acad. Sci. USA 81: 2447–2451.
Reeders, S.T., Breuning, M.H., Davis, K.E., Nicholls, R.D., Jarman, A.P., Higgs, D.R., Pearson, P.L., and Weatherall, D.J. 1985. A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16.Nature 317: 542–544
Southern, E.M. 1975. Detection of specific sequences among DNA fragments separated by gel electrophoresis.J. Mol. Biol. 98: 503–517
Tateishi, H., Nishisho, I., Miki, T., Takai, S., and Honjo, T. 1986. An anonymous single copy chromosome 18 probe associated with a frequent RFLP.Nucl. Acids Res. 14: 1926.
Ullrich, A., Dull, T.J., Gray, A., Brosius, J., and Sures, I. 1980. Genetic variation in the human insulin gene.Science 209: 612–615.
Van der Ploeg L.H.T. and Flavell, R.A. 1980. DNA methylation in the human γ,δ,β-globin locus in erythroid and nonerythroid tissues.Cell 19: 947–958.
Vogel, F. 1972. Non-randomness of base replacement in point mutation.J. Mol. Evol. 1: 334–367.
Vogel, F. and Kopun, M. 1977. Higher frequencies of transitions among point mutations.J. Mol. Evol. 9: 159–180.
Wainwright, B.J., Scambler, P.J., Schmidtke, J., Watson, E.A., Law, H.-Y., Farrall, M., Cook, H.J., Eiberg, H., and Williamson, R. 1985. Localization of cyctic fibrosis locus to human chromosome 7 cen-q22.Nature 318: 348–385.
White, R., Woodward, S., Leppert, M., O'Connell, P., Hoff, M., Herbst, J., Lalouel, J.-M., Dean, M., and Woude, G.V. 1985. A ceosely linked genetic marker for cystic fibrosis.Nature 318: 382–384.
Willard, H.F., Skolnick, M.H., Pearson, P.L., and Mandel, J.-L. 1985.Cytogenet. Cell. Genet. 40: 360–489.
Wyman, A.R. and White, R. 1980. A highly polymorphic locus in human DNA.Proc. Natl. Acad. Sci. USA 77: 6754–6758
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Nishisho, I., Miki, T., Tateishi, H. et al. Isolation of DNA clones revealing restriction fragment length polymorphisms in the human genome. Jap J Human Genet 31, 249–258 (1986). https://doi.org/10.1007/BF01870755
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DOI: https://doi.org/10.1007/BF01870755
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