Abstract
A somatic cell hybrid has been constructed and characterized using fibroblasts from a phenotypically normal woman who possesses an X chromosome with an interstitial deletion of the short arm. High-resolution banding indicates that the deleted segment is either Xp22.13-p11.4 or Xp22.11-p11.23. Southern blot hybridization to previously mapped DNA sequences confirms that the missing segment of the X chromosome is a deletion and not an interstitial translocation and supports the cytogenetic interpretation that the deletion extends proximal of Xp11.3 and therefore probably comprises Xp22.11-p11.23. Three further DNA sequences have been localized to the region of the deleted segment. The following order has been assigned to the seven probes used: Xpter-RC8-pXUT22-(OA1,C7,M2C)-L1.28-RD6 -Xcen.
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- Benham F. J., Hodgkinson S., Davies K. E. A glyceraldehyde-3-phosphate dehydrogenase pseudogene on the short arm of the human X chromosomes defines a multigene family. EMBO J. 1984 Nov;3(11):2635–2640. doi: 10.1002/j.1460-2075.1984.tb02186.x. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Carritt B., Povey S. Regional asssignments of the loci AK3, ACONS, and ASS on human chromosome 9. Cytogenet Cell Genet. 1979;23(3):171–181. doi: 10.1159/000131323. [DOI] [PubMed] [Google Scholar]
- 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]
- 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]
- Goss S. J., Harris H. Gene transfer by means of cell fusion I. Statistical mapping of the human X-chromosome by analysis of radiation-induced gene segregation. J Cell Sci. 1977 Jun;25:17–37. doi: 10.1242/jcs.25.1.17. [DOI] [PubMed] [Google Scholar]
- Harper M. E., Saunders G. F. Localization of single copy DNA sequences of G-banded human chromosomes by in situ hybridization. Chromosoma. 1981;83(3):431–439. doi: 10.1007/BF00327364. [DOI] [PubMed] [Google Scholar]
- Harper P. S., O'Brien T., Murray J. M., Davies K. E., Pearson P., Williamson R. The use of linked DNA polymorphisms for genotype prediction in families with Duchenne muscular dystrophy. J Med Genet. 1983 Aug;20(4):252–254. doi: 10.1136/jmg.20.4.252. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Hartley D. A., Davies K. E., Drayna D., White R. L., Williamson R. A cytological map of the human X chromosome--evidence for non-random recombination. Nucleic Acids Res. 1984 Jul 11;12(13):5277–5285. doi: 10.1093/nar/12.13.5277. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Herva R., Kaluzewski B., de la Chapelle A. Inherited interstitial del(Xp) with minimal clinical consequences: with a note on the location of genes controlling phenotypic features. Am J Med Genet. 1979;3(1):43–58. doi: 10.1002/ajmg.1320030110. [DOI] [PubMed] [Google Scholar]
- Kingston H. M., Harper P. S., Pearson P. L., Davies K. E., Williamson R., Page D. Localisation of gene for Becker muscular dystrophy. Lancet. 1983 Nov 19;2(8360):1200–1200. doi: 10.1016/s0140-6736(83)91252-7. [DOI] [PubMed] [Google Scholar]
- Kunkel L. M., Tantravahi U., Eisenhard M., Latt S. A. Regional localization on the human X of DNA segments cloned from flow sorted chromosomes. Nucleic Acids Res. 1982 Mar 11;10(5):1557–1578. doi: 10.1093/nar/10.5.1557. [DOI] [PMC free article] [PubMed] [Google Scholar]
- O'Brien T., Harper P. S., Davies K. E., Murray J. M., Sarfarazi M., Williamson R. Absence of genetic heterogeneity in Duchenne muscular dystrophy shown by a linkage study using two cloned DNA sequences. J Med Genet. 1983 Aug;20(4):249–251. doi: 10.1136/jmg.20.4.249. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Pembrey M. E., Davies K. E., Winter R. M., Elles R. G., Williamson R., Fazzone T. A., Walker C. Clinical use of DNA markers linked to the gene for Duchenne muscular dystrophy. Arch Dis Child. 1984 Mar;59(3):208–216. doi: 10.1136/adc.59.3.208. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 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]
- Westerveld A., Visser R. P., Meera Khan P., Bootsma D. Loss of human genetic markers in man--Chinese hamster somatic cell hybrids. Nat New Biol. 1971 Nov 3;234(44):20–24. doi: 10.1038/newbio234020a0. [DOI] [PubMed] [Google Scholar]
- Wieacker P., Davies K. E., Cooke H. J., Pearson P. L., Williamson R., Bhattacharya S., Zimmer J., Ropers H. H. Toward a complete linkage map of the human X chromosome: regional assignment of 16 cloned single-copy DNA sequences employing a panel of somatic cell hybrids. Am J Hum Genet. 1984 Mar;36(2):265–276. [PMC free article] [PubMed] [Google Scholar]
- Willard H. F., Smith K. D., Sutherland J. Isolation and characterization of a major tandem repeat family from the human X chromosome. Nucleic Acids Res. 1983 Apr 11;11(7):2017–2033. doi: 10.1093/nar/11.7.2017. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Worton R. G., Duff C., Sylvester J. E., Schmickel R. D., Willard H. F. Duchenne muscular dystrophy involving translocation of the dmd gene next to ribosomal RNA genes. Science. 1984 Jun 29;224(4656):1447–1449. doi: 10.1126/science.6729462. [DOI] [PubMed] [Google Scholar]
- Yang T. P., Hansen S. K., Oishi K. K., Ryder O. A., Hamkalo B. A. Characterization of a cloned repetitive DNA sequence concentrated on the human X chromosome. Proc Natl Acad Sci U S A. 1982 Nov;79(21):6593–6597. doi: 10.1073/pnas.79.21.6593. [DOI] [PMC free article] [PubMed] [Google Scholar]




