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. 1985 Sep;4(9):2257–2260. doi: 10.1002/j.1460-2075.1985.tb03923.x

A linkage map of three anonymous human DNA fragments and SOD-1 on chromosome 21.

S D Kittur, S E Antonarakis, R E Tanzi, D A Meyers, A Chakravarti, Y Groner, J A Phillips, P C Watkins, J F Gusella, H H Kazazian Jr
PMCID: PMC554494  PMID: 3000767

Abstract

Using DNA polymorphisms adjacent to single-copy genomic fragments derived from human chromosome 21, we initiated the construction of a linkage map of human chromosome 21. The probes were genomic EcoRI fragments pW228C, pW236B, pW231C and a portion of the superoxide dismutase gene (SOD-1). DNA polymorphisms adjacent to each of the probes were used as markers in informative families to perform classical linkage analysis. No crossing-over was observed between the polymorphic sites adjacent to genomic fragments pW228C and pW236B in 31 chances for recombination. Therefore, these fragments are closely linked to one another (theta = 0.00, lod score = 6.91, 95% confidence limits = 0-10 cM) and can be treated as one 'locus' with four high-frequency markers. There is a high degree of non-random association of markers adjacent to each of these two probes which suggests that they are physically very close to one another in the genome. The pW228C - pW236B 'locus' was also linked to the SOD-1 gene (theta = 0.07, lod score = 4.33, 95% confidence limits = 1-20 cM). On the other hand, no evidence for linkage was found between the pW228C-pW236B 'locus' and the genomic fragment pW231C (theta = 0.5, lod score = 0.00). Based on the fact that pW231C maps to 21q22.3 and SOD-1 to 21q22.1, we suggest that the pW228C-pW236B 'locus' lies in the proximal long arm of chromosome 21. These data provide the outline of a linkage map for the long arm of chromosome 21, and indicate that the pW228C-pW236B 'locus' is a useful marker system to differentiate various chromosome 21s in a population.

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Selected References

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  1. Antonarakis S. E., Boehm C. D., Giardina P. J., Kazazian H. H., Jr Nonrandom association of polymorphic restriction sites in the beta-globin gene cluster. Proc Natl Acad Sci U S A. 1982 Jan;79(1):137–141. doi: 10.1073/pnas.79.1.137. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Antonarakis S. E., Phillips J. A., 3rd, Mallonee R. L., Kazazian H. H., Jr, Fearon E. R., Waber P. G., Kronenberg H. M., Ullrich A., Meyers D. A. Beta-globin locus is linked to the parathyroid hormone (PTH) locus and lies between the insulin and PTH loci in man. Proc Natl Acad Sci U S A. 1983 Nov;80(21):6615–6619. doi: 10.1073/pnas.80.21.6615. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Cavenee W., Leach R., Mohandas T., Pearson P., White R. Isolation and regional localization of DNA segments revealing polymorphic loci from human chromosome 13. Am J Hum Genet. 1984 Jan;36(1):10–24. [PMC free article] [PubMed] [Google Scholar]
  4. Chakravarti A., Buetow K. H., Antonarakis S. E., Waber P. G., Boehm C. D., Kazazian H. H. Nonuniform recombination within the human beta-globin gene cluster. Am J Hum Genet. 1984 Nov;36(6):1239–1258. [PMC free article] [PubMed] [Google Scholar]
  5. Chakravarti A., Phillips J. A., 3rd, Mellits K. H., Buetow K. H., Seeburg P. H. Patterns of polymorphism and linkage disequilibrium suggest independent origins of the human growth hormone gene cluster. Proc Natl Acad Sci U S A. 1984 Oct;81(19):6085–6089. doi: 10.1073/pnas.81.19.6085. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Drayna D., Davies K., Hartley D., Mandel J. L., Camerino G., Williamson R., White R. Genetic mapping of the human X chromosome by using restriction fragment length polymorphisms. Proc Natl Acad Sci U S A. 1984 May;81(9):2836–2839. doi: 10.1073/pnas.81.9.2836. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. Fearon E. R., Antonarakis S. E., Meyers D. A., Levine M. A. c-Ha-ras-1 oncogene lies between beta-globin and insulin loci on human chromosome 11p. Am J Hum Genet. 1984 Mar;36(2):329–337. [PMC free article] [PubMed] [Google Scholar]
  8. Kazazian H. H., Jr, Antonarakis S. E., Wong C., Trusko S. P., Stetten G., Oliver M., Potter M. J., Gusella J. F., Watkins P. C. Ring chromosome 21: characterization of DNA sequences at sites of breakage and reunion. Ann N Y Acad Sci. 1985;450:33–42. doi: 10.1111/j.1749-6632.1985.tb21481.x. [DOI] [PubMed] [Google Scholar]
  9. Kunkel L. M., Smith K. D., Boyer S. H., Borgaonkar D. S., Wachtel S. S., Miller O. J., Breg W. R., Jones H. W., Jr, Rary J. M. Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants. Proc Natl Acad Sci U S A. 1977 Mar;74(3):1245–1249. doi: 10.1073/pnas.74.3.1245. [DOI] [PMC free article] [PubMed] [Google Scholar]
  10. Levanon D., Lieman-Hurwitz J., Dafni N., Wigderson M., Sherman L., Bernstein Y., Laver-Rudich Z., Danciger E., Stein O., Groner Y. Architecture and anatomy of the chromosomal locus in human chromosome 21 encoding the Cu/Zn superoxide dismutase. EMBO J. 1985 Jan;4(1):77–84. doi: 10.1002/j.1460-2075.1985.tb02320.x. [DOI] [PMC free article] [PubMed] [Google Scholar]
  11. MORTON N. E. Sequential tests for the detection of linkage. Am J Hum Genet. 1955 Sep;7(3):277–318. [PMC free article] [PubMed] [Google Scholar]
  12. Maniatis T., Kee S. G., Efstratiadis A., Kafatos F. C. Amplification and characterization of a beta-globin gene synthesized in vitro. Cell. 1976 Jun;8(2):163–182. doi: 10.1016/0092-8674(76)90001-5. [DOI] [PubMed] [Google Scholar]
  13. Moore E. E., Jones C., Kao F. T., Oates D. C. Synteny between glycinamide ribonucleotide synthetase and superoxide dismutase (soluble). Am J Hum Genet. 1977 Jul;29(4):389–396. [PMC free article] [PubMed] [Google Scholar]
  14. Ott J. Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies. Am J Hum Genet. 1974 Sep;26(5):588–597. [PMC free article] [PubMed] [Google Scholar]
  15. Patterson D., Graw S., Jones C. Demonstration, by somatic cell genetics, of coordinate regulation of genes for two enzymes of purine synthesis assigned to human chromosome 21. Proc Natl Acad Sci U S A. 1981 Jan;78(1):405–409. doi: 10.1073/pnas.78.1.405. [DOI] [PMC free article] [PubMed] [Google Scholar]
  16. Schmickel R. D., Knoller M. Characterization and localization of the human genes for ribosomal ribonucleic acid. Pediatr Res. 1977 Aug;11(8):929–935. doi: 10.1203/00006450-197708000-00015. [DOI] [PubMed] [Google Scholar]
  17. Sinet P. M., Couturier J., Dutrillaux B., Poissonnier M., Raoul O., Rethore M. O., Allard D., Lejeune J., Jerome H. Trisomie 21 et superoxyde dismutase-1 (IPO-A). Tentative de localisation sur la sous bande 21Q22.1. Exp Cell Res. 1976 Jan;97:47–55. doi: 10.1016/0014-4827(76)90653-4. [DOI] [PubMed] [Google Scholar]
  18. Skovby F., Krassikoff N., Francke U. Assignment of the gene for cystathionine beta-synthase to human chromosome 21 in somatic cell hybrids. Hum Genet. 1984;65(3):291–294. doi: 10.1007/BF00286520. [DOI] [PubMed] [Google Scholar]
  19. Southern E. M. Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol. 1975 Nov 5;98(3):503–517. doi: 10.1016/s0022-2836(75)80083-0. [DOI] [PubMed] [Google Scholar]
  20. Tan Y. H., Tischfield J., Ruddle F. H. The linkage of genes for the human interferon-induced antiviral protein and indophenol oxidase-B traits to chromosome G-21. J Exp Med. 1973 Feb 1;137(2):317–330. doi: 10.1084/jem.137.2.317. [DOI] [PMC free article] [PubMed] [Google Scholar]
  21. Vora S., Francke U. Assignment of the human gene for liver-type 6-phosphofructokinase isozyme (PFKL) to chromosome 21 by using somatic cell hybrids and monoclonal anti-L antibody. Proc Natl Acad Sci U S A. 1981 Jun;78(6):3738–3742. doi: 10.1073/pnas.78.6.3738. [DOI] [PMC free article] [PubMed] [Google Scholar]

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