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Exclusion gene mapping utilizing patients with chromosome imbalance: The HL-A system as a prototype

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Summary

17 chromosomally unbalanced patients, their siblings and parents were tested for HL-A types and for up to 25 other polymorphic systems to determine whether there was gain or loss of an allele concurrent with the gain or loss of chromosome material. 5 patients had trisomy of part or all of a chromosome; 2 had trisomy of a segment and also deletion of chromosome material. All 7 were due to a familial translocation. The remaining patients had small deletions; 5 had ring chromosomes, 4 had rod deletions and 1 had missing chromosome material due to a heritable translocation. All cases were informative at the HL-A loci because of the high degree of polymorphism of the system whereas only some of the other systems were informative. None of the 17 patients showed unusual inheritance of HL-A or any other of the polymorphic systems examined. These results provide evidence excluding the HL-A and other loci from a number of possible locations in the human genome.

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References

  • Bodmer, J. G., Rocques, P., Bodmer, W. F., Colombani, J., Degas, L., Dausset, J., Piazza, A.: I. Population Studies. In: Joint Report of the Fifth International Histocompatibility Workshop, pp. 621–667, 1972

  • Bender, K., Burckhardt, K.: On the localization of genes on certain autosomes of man through chromosome aberrations. III. Exclusion of the possibility of gene assignment. Humangenetik 9, 75–85 (1970)

    Google Scholar 

  • Bender, K., Schindera, F., Kissmeyer-Nielson, F.: Localization exclusion of the HL-A genes from the short arm of human chromosome 5. Humangenetik 11, 78–80 (1970)

    Google Scholar 

  • Bootsma, D., Giblett, E. B.: Report of the committee on the genetic constitution of autosomes other than chromosome 1. In: Human gene mapping (New Haven Conference (1973) (ed. Daniel Bergsma)). Birth Defects: Original Article Series X, 21–28 (1974)

  • Borgoankar, D. S., Bias, W. B.: HL-A loci and chromosome 6. In: Human gene mapping (New Haven Conference (1973) (ed. Daniel Bergsma)). Birth Defects: Original Article Series X, 67–68 (1974)

  • Burnham, C.: Interchanges. In: Discussions in cytogenetics, pp. 66–116. Minneapolis: Burgess Publ. 1962

    Google Scholar 

  • Caspersson, T., Lomakka, G., Zech, L.: The 24 fluorescence patterns of the human metaphase chromosomes-distinguishing characters and variability. Hereditas (Lund) 67, 89–102 (1971)

    Google Scholar 

  • Cook, P. J. L., Gray, J. E., Brack, R. A., Robson, E. B., Howlett, R. M.: Data on haptoglobin and the D group chromosomes. Ann. hum. Genet. 33, 125–135 (1969)

    Google Scholar 

  • de Grouchy, J.: The 18p-, 18q- and 18r syndromes. In: Birth Defects: Original Article Series V, 74–87 (1969)

  • Donahue, R. P., Bias, W. B., Renwick, J. W., McKusick, V. A.: Probable assignment of the Duffy blood group locus to chromosome 1 in man. Proc. nat. Acad. Sci. (Wash.) 61, 949–955 (1968)

    Google Scholar 

  • Dobzhansky, T.: Genetical and cytological proof of translocations involving the third and fourth chromosomes of Drosophila melanogaster. Biologisches Zentralblatt 49, 408–419 (1929)

    Google Scholar 

  • Edwards, J. H., Allen, F. H., Glenn, K. P., Lamm, L. U., Robson, E. B.: The linkage relationships of HL-A. In: Histocompatibility testing, pp. 745–751. Baltimore: Williams and Wilkins 1972

    Google Scholar 

  • Fellous, M., Billardon, C., Dausset, J., Frezal, J.: Etudes de linkage enculture de cellules. II. Marqueurs antigeniques (abstract), Fourth Int. Cong. Human Genetics, Paris, pp. 66–67, 1971

  • Furguson-Smith, M. A., Newman, B. F., Ellis, P. M., Thomson, D. M. G.: Assignment by deletion of human red cell acid phosphatase gene locus to the short arm of chromosome 2. Nature (Lond.) New Biol. 243, 271–273 (1973)

    Google Scholar 

  • Gall, J. G., Pardue, M. L.: Formation and detection of RNA-DNA hybrid molecules in cytological preparations. Proc. nat. Acad. Sci. (Wash.) 63, 378–383 (1969)

    Google Scholar 

  • German, J., Chaganti, R. S. K.: Mapping human autosomes: Assignment of the MN locus to a specific segment in the long arm of chromosome no. 2. Science 182, 1261–1262 (1973)

    Google Scholar 

  • Giblett, E.: Genetic markers in human blood. Philadelphia: Davis 1969

    Google Scholar 

  • Hamerton, J. L., Cook, P. J. L.: Report of the committee on the genetic constitution of chromosome 1. In: Human gene mapping (New Haven Conference (1973) (ed. Daniel Bergsma)). Birth Defects: Original Article Series X, 13–20 (1974)

  • Hecht, F.: Ring-4 chromosome: Ring autosomes, lorelei of clinical-karyotype correlation and deletion mapping. Birth Defects: Original Article Series V, 106–113 (1969)

  • Hirschhorn, K., Cooper, H. L., Firschein, I. L.: Deletion of short arms of chromosome 4–5 in a child with defects of midline fusion. Humangenetik 1, 479–482 (1965)

    Google Scholar 

  • Histocompatibility testing (ed. J. Dausset, J. Colombani). Baltimore: Williams and Wilkins 1972

    Google Scholar 

  • Jones, K. W., Corneo, G.: Location of satellite and homogeneous DNA sequences on human chromosomes. Nature (Lond.) New Biol. 233, 268–271 (1971)

    Google Scholar 

  • Jongsma, A., van Someren, H., Westerveld, A., Hagemeijer, A., Pearson, P.: Localization of genes on human chromosomes by studies of human-Chinese hamster somatic cell hybrids. Humangenetik 20, 195–202 (1973)

    Google Scholar 

  • Kissmeyer-Nielson, F., Svejgaard, A., Hauge, M.: Genetics of the human HL-A transplantation system. Nature (Lond.) 219, 1116–1119 (1968)

    Google Scholar 

  • Kissmeyer-Nielson, F., Thorsby, E.: Human transplantation antigens. In: Transplantation reviews 4 (ed. E. Moller). Baltimore: Williams and Wilkins 1970

    Google Scholar 

  • Krieger, D., Palmer, C., Beigel, A.: Human autosomal deletion mapping and HL-A. Humangenetik 23, 159–160 (1974)

    Google Scholar 

  • Lamm, L. U., Svejgaard, A., Kissmeyer-Nielson, F.: PGM3: HL-A is another linkage in man. Nature (Lond.) New Biol. 231, 109–110 (1971)

    Google Scholar 

  • Lejeune, J., LaFourcade, J., Berger, R., Cruveiller, J., Rethoré, M.-O., Dutrillaux, B., Abonyi, D., Jérôme, H.: Le phénotype (Dr). Etude de trois cas de chromosomes D en anneau. Ann. Génét. 11, 79–81 (1968)

    Google Scholar 

  • Lejeune, J., LaFourcade, J., Berger, R., Vialatte, J., Boeswillard, M., Serlinge, P., Turpin, R.: Trois cas de deletion partielle du bras court d'un chromosome 5. C.R. Acad. Sci. (Paris) 257, 3098–3102 (1963)

    Google Scholar 

  • Magenis, R. E., Armendares, S., Hecht, F., Weleber, R. G., Overton, K.: Identification by fluorescence of two G rings: (46,XY,21r) G deletion syndrome I and (46,XX,22r) G deletion syndrome II. Ann. Génét. 15, 265–266 (1972)

    Google Scholar 

  • Magenis, R. E., Hecht, F., Lovrien, E. W.: Heritable fragile site on chromosome 16: Probable localization of haptoglobin locus in man. Science 170, 85–87 (1970)

    Google Scholar 

  • Matsuya, Y., Green, H., Basilico, C.: Properties and uses of human-mouse hybrid cell lines. Nature (Lond.) 220, 1199–1202 (1968)

    Google Scholar 

  • Moorhead, P. S., Nowell, P. C., Mellman, W. J., Battips, D. M., Hungerford, D. A.: Chromosome preparations of leukocytes cultured from human peripheral blood. Exp. Cell Res. 20, 613–616 (1960)

    Google Scholar 

  • Niebuhr, E., Ottosen, J.: Ring chromosome D (13) associated with multiple congenital malformations. Ann. Génét. 16, 157–166 (1973)

    Google Scholar 

  • Nyulassy, S., Izakovic, V.: A comment to the Paper: Localization exclusion of the HL-A genes from the short arm of human chromosomes (Humangenetik 11, 78–80 (1970)). Humangenetik 20, 193–194 (1973)

    Google Scholar 

  • Paris Conference (1971): Standardization in human cytogenetics. Birth Defects: Original Article Series, VIII. New York: The National Foundation 1972

    Google Scholar 

  • Race, R. R., Sanger, R.: Blood groups in man, 4th Ed. Oxford: Blackwell 1962

    Google Scholar 

  • Renwick, J. H.: Progress in mapping human autosomes. Brit. med. Bull. 25, 65–73 (1969)

    Google Scholar 

  • Renwick, J. H.: The mapping of human chromosomes. Ann. Rev. Genet. 5, 81–120 (1971)

    Google Scholar 

  • Robson, E. B., Polani, P. E., Dart, S. J., Jacobs, P. A., Renwick, J. H.: Probable assignment of the alpha locus of haptoglobin to chromosome 16 in man. Nature (Lond.) 223, 1163–1165 (1969)

    Google Scholar 

  • Ruddle, F. H.: Summary of human gene map. In: Human gene mapping (New Haven Conference (1973) (ed. Daniel Bergsma)). Birth Defects: Original Article Series X, 11–12 (1974)

  • Ruddle, F. H., Chapman, W. M., Ricciuti, F., Murnane, M., Klebe, R., Meera Kahn, P.: Linkage relationships of seventeen human gene loci as determined by man-mouse somatic cell hybrids. Nature (Lond.) New Biol. 232, 69–73 (1971)

    Google Scholar 

  • Seabright, M.: A rapid banding technique for human chromosomes. Lancet 1971 II, 971–972

  • Shows, T. B., Bias, W. B.: Report of the committee on genetic markers; Gene markers for mapping the human genome. In: Human gene mapping (New Haven Conference (1973) (ed. Daniel Bergsma)). Birth Defects: Original Article Series X, 35–48 (1974)

  • Steele, M. W., Breg, W. R., Eidelman, A. I., Lion, D. T., Terzakis, T. A.: A B-group ring chromosome with mosaicism in a newborn with Cri du Chat Syndrome. Cytogenetics 5, 419–429 (1966)

    Google Scholar 

  • Taylor, A. I.: Patau's, Edwards' and Cri du Chat syndromes: A tabulated summary of current findings. Develop. Med. Child. Neurol. 9, 78–86 (1967)

    Google Scholar 

  • Terasaki, P.: Manual of tissue typing techniques (ed. J. G. Ray, R. C. Scott, D. B. Hare, C. E. Harris, D. E. Kayhoe), pp. 50–55. Bethesda, Md.: Transplantation and Immunology Branch Collaborative Research, National Institute of Allergy and Infectious Diseases, N.I.H. 1972

    Google Scholar 

  • Thorsby, E., Bratlie, A.: A rapid method for preparation of pure lymphocyte suspensions. In: Histocompatibility testing (ed. P. I. Terasaki), pp. 655–656. Baltimore: Williams and Wilkins 1970

    Google Scholar 

  • Tischfield, J. A., Creagan, R. P., Nichols, E., Ruddle, F. H.: Assignment to human chromosome 20 of the gene for the isozyme of adenosine deaminase deficient in patients with combined immuno-deficiency syndrome. Abstract: American Society of Human Genetics meeting, Atlanta, Georgia, Oct. 24–27, 1973

  • Van Someren, H., Westerveld, A., Hagemeijer, A., Mees, J. R., Meera Khan, P., Zaalberg, O. B.: Human antigen and enzyme markers in man-Chinese hamster somatic cell hybrids: Evidence for snyteny between the HL-A, PGM3, ME1, and IPO-B loci. Proc. nat. Acad. Sci. (Wash.) 71, 962–965 (1974)

    Google Scholar 

  • Warren, R. J., Rimoin, D. L.: The G-deletion syndromes. J. Pediat. 77, 658–663 (1970)

    Google Scholar 

  • Weitkamp, L. R., Janzen, M. K., Guttormsen, S. A., Gershowitz, H.: Inherited pericentric inversion of chromosome number two: a linkage study. Ann. hum. Genet. 33, 53–59 (1969)

    Google Scholar 

  • Weleber, R. G., Hecht, F., Giblett, E.: Ring-G chromosome, a new G-deletion syndrome? Amer. J. Dis. Child. 115, 489–493 (1968)

    Google Scholar 

  • Wolf, U., Reinwein, H., Prosch, R., Schröter, R., Baitsch, H.: Defizienz an den kurzen Armen eines Chromosoms Nr. 4. Humangenetik 1, 397–413 (1965)

    Google Scholar 

  • Wyandt, H. E., Vlietinck, R. F., Magenis, R. E., Hecht, F.: Colored reverse banding of human chromosomes with acridine orange following alkaline/formalin treatment: Densitometric validation and applications. Humangenetik 23, 119–130 (1974)

    Google Scholar 

  • Ying, K.-L., Ives, E.: Asymmetry of chromosome number 1 pair in three generations of a phenotypically normal family. Canad. J. Genet. Cytol. 10, 575–589 (1968)

    Google Scholar 

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Authors and Affiliations

  1. Child Development and Rehabilitation Center, Division of Medical Genetics and Department of Pediatrics, University of Oregon Medical School, Portland, Oregon

    R. E. Magenis, K. Overton, H. Wyandt, T. Bergstrom, F. Hecht & E. Lovrien

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  1. R. E. Magenis
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  2. K. Overton
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  3. H. Wyandt
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  4. T. Bergstrom
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  5. F. Hecht
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  6. E. Lovrien
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Additional information

Supported by Maternal and Child Health Services 920 and a grant from the Medical Research Foundation of Oregon.

Supported by NIH grants AM 13173 and HD-05082 and a Basil O'Connor Starter Research Grant from the National Foundation March of Dimes.

Supported by Crippled Children's Division of Oregon Summer Student Funds.

Supported by a grant from the National Foundation March of Dimes.

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Magenis, R.E., Overton, K., Wyandt, H. et al. Exclusion gene mapping utilizing patients with chromosome imbalance: The HL-A system as a prototype. Hum Genet 27, 91–109 (1975). https://doi.org/10.1007/BF00273324

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  • DOI: https://doi.org/10.1007/BF00273324

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