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. 1985 Sep 11;13(17):6075–6088. doi: 10.1093/nar/13.17.6075

Isolation of polymorphic DNA segments from human chromosome 21.

P C Watkins, R E Tanzi, K T Gibbons, J V Tricoli, G Landes, R Eddy, T B Shows, J F Gusella
PMCID: PMC321939  PMID: 4047940

Abstract

A somatic cell hybrid line containing only human chromosome 21 on a mouse background has been used as the source of DNA for construction of a recombinant phage library. Individual phages containing human inserts have been identified. Repeat-free human DNA subclones have been prepared and used to screen for restriction fragment length polymorphisms to provide genetic markers on chromosome 21. Nine independently isolated clones used as probes identified a total of 11 new RFLPs. Four of the DNA probes recovered from the library have been mapped unequivocally to chromosome 21 using a panel of somatic cell hybrid lines. A fifth probe detected an RFLP on chromosome 21 as well as sequences on other chromosomes. This set of RFLPs may now form the basis for construction of a genetic linkage map of human chromosome 21.

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Selected References

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  1. Anderson M. A., Gusella J. F. Use of cyclosporin A in establishing Epstein-Barr virus-transformed human lymphoblastoid cell lines. In Vitro. 1984 Nov;20(11):856–858. doi: 10.1007/BF02619631. [DOI] [PubMed] [Google Scholar]
  2. Barker D., Schafer M., White R. Restriction sites containing CpG show a higher frequency of polymorphism in human DNA. Cell. 1984 Jan;36(1):131–138. doi: 10.1016/0092-8674(84)90081-3. [DOI] [PubMed] [Google Scholar]
  3. Benton W. D., Davis R. W. Screening lambdagt recombinant clones by hybridization to single plaques in situ. Science. 1977 Apr 8;196(4286):180–182. doi: 10.1126/science.322279. [DOI] [PubMed] [Google Scholar]
  4. Bhattacharya S. S., Wright A. F., Clayton J. F., Price W. H., Phillips C. I., McKeown C. M., Jay M., Bird A. C., Pearson P. L., Southern E. M. Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28. Nature. 1984 May 17;309(5965):253–255. doi: 10.1038/309253a0. [DOI] [PubMed] [Google Scholar]
  5. Botstein D., White R. L., Skolnick M., Davis R. W. Construction of a genetic linkage map in man using restriction fragment length polymorphisms. Am J Hum Genet. 1980 May;32(3):314–331. [PMC free article] [PubMed] [Google Scholar]
  6. Davies K. E., Pearson P. L., Harper P. S., Murray J. M., O'Brien T., Sarfarazi M., Williamson R. Linkage analysis of two cloned DNA sequences flanking the Duchenne muscular dystrophy locus on the short arm of the human X chromosome. Nucleic Acids Res. 1983 Apr 25;11(8):2303–2312. doi: 10.1093/nar/11.8.2303. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. Gusella J. F., Keys C., VarsanyiBreiner A., Kao F. T., Jones C., Puck T. T., Housman D. Isolation and localization of DNA segments from specific human chromosomes. Proc Natl Acad Sci U S A. 1980 May;77(5):2829–2833. doi: 10.1073/pnas.77.5.2829. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. Gusella J. F., Tanzi R. E., Anderson M. A., Hobbs W., Gibbons K., Raschtchian R., Gilliam T. C., Wallace M. R., Wexler N. S., Conneally P. M. DNA markers for nervous system diseases. Science. 1984 Sep 21;225(4668):1320–1326. doi: 10.1126/science.6089346. [DOI] [PubMed] [Google Scholar]
  9. Gusella J. F., Wexler N. S., Conneally P. M., Naylor S. L., Anderson M. A., Tanzi R. E., Watkins P. C., Ottina K., Wallace M. R., Sakaguchi A. Y. A polymorphic DNA marker genetically linked to Huntington's disease. Nature. 1983 Nov 17;306(5940):234–238. doi: 10.1038/306234a0. [DOI] [PubMed] [Google Scholar]
  10. Gusella J., Varsanyi-Breiner A., Kao F. T., Jones C., Puck T. T., Keys C., Orkin S., Housman D. Precise localization of human beta-globin gene complex on chromosome 11. Proc Natl Acad Sci U S A. 1979 Oct;76(10):5239–5242. doi: 10.1073/pnas.76.10.5239. [DOI] [PMC free article] [PubMed] [Google Scholar]
  11. Hohn B., Murray K. Packaging recombinant DNA molecules into bacteriophage particles in vitro. Proc Natl Acad Sci U S A. 1977 Aug;74(8):3259–3263. doi: 10.1073/pnas.74.8.3259. [DOI] [PMC free article] [PubMed] [Google Scholar]
  12. Korenberg J. R., Engels W. R. Base ratio, DNA content, and quinacrine-brightness of human chromosomes. Proc Natl Acad Sci U S A. 1978 Jul;75(7):3382–3386. doi: 10.1073/pnas.75.7.3382. [DOI] [PMC free article] [PubMed] [Google Scholar]
  13. Kozak C. A., Lawrence J. B., Ruddle F. H. A sequential staining technique for the chromosomal analysis of the interspecific mouse/hamster and mouse/human somatic cell hybrids. Exp Cell Res. 1977 Mar 1;105(1):109–117. doi: 10.1016/0014-4827(77)90156-2. [DOI] [PubMed] [Google Scholar]
  14. Murray J. C., Mills K. A., Demopulos C. M., Hornung S., Motulsky A. G. Linkage disequilibrium and evolutionary relationships of DNA variants (restriction enzyme fragment length polymorphisms) at the serum albumin locus. Proc Natl Acad Sci U S A. 1984 Jun;81(11):3486–3490. doi: 10.1073/pnas.81.11.3486. [DOI] [PMC free article] [PubMed] [Google Scholar]
  15. Naylor S. L., Sakaguchi A. Y., Shows T. B., Law M. L., Goeddel D. V., Gray P. W. Human immune interferon gene is located on chromosome 12. J Exp Med. 1983 Mar 1;157(3):1020–1027. doi: 10.1084/jem.157.3.1020. [DOI] [PMC free article] [PubMed] [Google Scholar]
  16. Owerbach D., Bell G. I., Rutter W. J., Brown J. A., Shows T. B. The insulin gene is located on the short arm of chromosome 11 in humans. Diabetes. 1981 Mar;30(3):267–270. doi: 10.2337/diab.30.3.267. [DOI] [PubMed] [Google Scholar]
  17. Shows T. B., Brown J. A., Haley L. L., Byers M. G., Eddy R. L., Cooper E. S., Goggin A. P. Assignment of the beta-glucuronidase structural gene to the pter leads to q22 region of chromosome 7 in man. Cytogenet Cell Genet. 1978;21(1-2):99–104. doi: 10.1159/000130882. [DOI] [PubMed] [Google Scholar]
  18. Shows T. B. Human genome organization of enzyme loci and metabolic diseases. Isozymes Curr Top Biol Med Res. 1983;10:323–339. [PubMed] [Google Scholar]
  19. Shows T. B., Sakaguchi A. Y., Naylor S. L. Mapping the human genome, cloned genes, DNA polymorphisms, and inherited disease. Adv Hum Genet. 1982;12:341–452. doi: 10.1007/978-1-4615-8315-8_5. [DOI] [PubMed] [Google Scholar]
  20. Shows T., Eddy R., Haley L., Byers M., Henry M., Fujita T., Matsui H., Taniguchi T. Interleukin 2 (IL2) is assigned to human chromosome 4. Somat Cell Mol Genet. 1984 May;10(3):315–318. doi: 10.1007/BF01535253. [DOI] [PubMed] [Google Scholar]
  21. Yang R., Lis J., Wu R. Elution of DNA from agarose gels after electrophoresis. Methods Enzymol. 1979;68:176–182. doi: 10.1016/0076-6879(79)68012-6. [DOI] [PubMed] [Google Scholar]

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