Summary
The coagulation factor IX gene and two other polymorphic loci corresponding to DNA probes 52 A and St 14 have been previously localized in the q27 to qter region of the human X chromosome. In order to study their localization with respect to the fragile site at Xq27-28, we have hybridized the three DNA probes to metaphase chromosomes of a boy with fragile X mental retardation. We show that probe 52A is located in the proximal part of the Xq27 band, while the coagulation factor IX gene is on the distal part of this band, but proximal to the fragile site. The very polymorphic St 14 probe is located in the distal part of the Xq28 band, on the other side of the fragile site.
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References
Berge-Lefranc JL, Cartouzou G, Mattei MG, Passage E, Malezet-Desmoulins C, Lissitzky S (1985) Localization of the thyroglobulin gene by in situ hybridization to human genome. Hum Genet 69:28–31
Boyd Y, Buckle VJ, Munro EA, Choo KH, Migeon BR, Craig IW (1984) Assignment of the haemophilia B (factor IX) locus to the q26-qter region of the X chromosome. Ann Hum Genet 48:145–152
Camargo M, Cervenka J (1982) Patterns of DNA replication of human chromosomes. II. Replication map and replication model. Am J Hum Genet 34:757–780
Camerino G, Mattei MG, Mattei JF, Jaye M, Mandel JL (1983) Close linkage of fragile X-mental retardation syndrome to haemophilia B and transmission through a normal male. Nature 306:701–704
Camerino G, Grzeschik KH, Jaye M, de la Salle H, Tolstoshev P, Lecocq JP, Heilig R, Mandel JL (1984) Regional localization on the human X chromosome and polymorphism of the coagulation factor IX gene (haemophilia B locus). Proc Natl Acad Sci (USA) 81:498–502
Chance PF, Dyer KE, Kurachi K, Yoshitake S, Ropers HH, Wiacker P, Gartler SM (1983) Regional localization of the human factor IX gene by molecular hybridization. Hum Genet 65:207–208
Davies KE, Young BD, Elles RG, Hill ME, Williamson R (1981) Cloning of a representative genomic library of the human X chromosome after sorting by flow cytometry. Nature 293:374–376
Drayna D, Davies K, Hartley D, Mandel JL, Camerino G, Williamson R, White R (1984) Genetic mapping of the human X chromosome by using restriction fragment length polymorphisms. Proc Natl Acad Sci USA 81:2836–2839
Fishburn J, Turner G, Daniel A, Brookwell R (1983) The diagnosis and frequency of X-linked conditions in a cohort of moderately retarded males with affected brothers. Am J Med Genet 14:713–724
Gerhard DS, Kawasaki ES, Bancroft FC, Szabo D (1981) Localization of a unique gene by direct hybridization in situ. Proc Natl Acad Sci USA 78:3755–3759
Harper ME, Barrera-Saldana HA, Saunders GF (1982) Chromosomal localization of the human placental lactogen-growth hormone gene cluster to 17q22-24. Am J Hum Genet 34:227–234
Hartley DA, Davies KE, Drayna D, White RL, Williamson R (1984) A cytological map of the human X chromosome. Evidence for non-random recombination. Nucleic Acids Res 13:5277–5285
Jacobs PA, Mayer M, Matsuura J, Rhoads F, Yee SC (1983) A cytogenetic study of a population of mentally retarded males with special reference to the marker (X) syndrome. Hum Genet 63:139–148
Mattei JF, Mattei MG, Aumeras C, Auger M, Giraud F (1981) X-linked mental retardation with the fragile X. A study of 15 families. Hum Genet 59:281–289
Mattei MG, Philip N, Passage E, Moisan JP, Mandel JL, Mattei JF (1985) DNA probe localization at 18p113 by in situ hybridization and identification of a small supernumerary chromosome. Hum Genet 69:268–271
Oberle I, Drayna D, Camerino G, White R, Mandel JL (to be published) The telomeric region of the human X chromosome long arm: Presence of a highly polymorphic DNA marker and analysis of recombination frequency. Proc Natl Acad Sci USA
Zabel BU, Naylor SL, Sakaguchi AY, Bell GI, Shows TB (1983) High-resolution chromosomal localization of human genes for amylase, proopiomelanocortin, somatostatin, and a DNA fragment (D3S1) by in situ hybridization. Proc Natl Acad Sci USA 80:6932–6936
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Mattei, M.G., Baeteman, M.A., Heilig, R. et al. Localization by in situ hybridization of the coagulation factor IX gene and of two polymorphic DNA probes with respect to the fragile X site. Hum Genet 69, 327–331 (1985). https://doi.org/10.1007/BF00291650
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DOI: https://doi.org/10.1007/BF00291650