Summary
We have localized a single-copy DNA probe, HU16 (locus DXS26), to Xq21.1. The probe was isolated from a human-mouse hybrid X;13 library and mapped with human-mouse hybrids containing different portions of the human X chromosome and DNA from male patients with different X-chromosomal deletions. The following order of loci is proposed: Xcen-(DXS72, DXS169)-(DXS232,DXS26)-DXS121-DXS233-DXS165 TCD-DXS95-DXYSl-Xqter. HU16 will be useful in the study of the putative genes that reside in Xq21 and whose defects lead to deafness and mental retardation.
References
Arveiler B, Alembik Y, Hanauer A, Jacobs P, Tranebjaerg L, Mikkelsen M, Puissant H, Larget Piet L, Mandel J-L (1988) Linkage analysis suggests at least two loci for X-linked non specific mental retardation. Am J Med Genet 30:473–483
Botstein D, White RL, Skolnick M, Davis RW (1980) Construction of a genetic linkage map in man using restriction fragment length polymorphisms. Am J Hum Genet 32:314–331
Bruns G, Gusella J, Keys C, Leary A, Housman D, Gerald P (1982) Isolation of X chromosome DNA sequences. Adv Exp Med Biol 154:60–72
Cremers FPM, Pol TJR van de, Wieringa B, Hofker MH, Pearson PL, Pfeiffer RA, Mikkelsen M, Tabor A, Ropers H-H (1988) Molecular analysis of male-viable deletions and duplications allows ordering of 52 DNA probes on proximal Xq. Am J Hum Genet 43:452–461
Cremers FPM, Pol DJR van de, Diergaarde PJ, Wieringa B, Nussbaum RL, Schwartz M, Ropers H-H (1989a) Physical fine mapping of the choroideremia locus using Xq21 deletions associated with complex syndromes. Genomics 4:41–46
Cremers F, Pol D van de, Wieringa B, Collins F, Siu V, Flintoff W, Sankila EM, Ropers H-H (1989b) Chromosomal walking and jumping from the DXS165 locus allows physical fine mapping of the tapetochoroidal dystrophy (TCD) gene locus (abstract). (10th International Workshop on Human Gene Mapping) Cytogenet Cell Genet 51:982
Cremers FPM, Pol DJR van de, Wieringa B, Collins FS, Sankila EM, Siu VM, Flintoff WF, Brunsmann F, Blonden LAJ, Ropers H-H (1989c) Chromosomal jumping from the DXS165 locus allows molecular characterization of four microdeletions and a de novo chromosome X/13 translocation associated with choroideremia. Proc Natl Acad Sci USA 86:7510–7514
Dryja TP, Bruns GAP, Orkin SH, Albert DM, Gerald PS (1983) Isolation of DNA fragments from chromosome 13. Retina 3:121–125
Dryja T, Rapaport JM, Albert DM, Morton CC, Gusella JF, Bruns G (1984) Restriction fragment length polymorphisms from 13q. Cytogenet Cell Genet 37:457
Feinberg AP, Vogelstein B (1983) A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity. Anal Biochem 132:6–13
Francke U, Ochs HD, Martinville B de, Giacalone J, Lindgren V, Disteche C, Pagon RA, Hofker MH, Ommen G-JB van, Pearson PL, Wedgwood RJ (1985) Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome. Am J Hum Genet 37:250–267
Hodgson SV, Robertson ME, Fear CN, Goodship J, Malcolm S, Jay B, Bobrow M, Pembrey ME (1987) Prenatal diagnosis of X-linked choroideremia with mental retardation, associated with a cytologically detectable X-chromosome deletion. Hum Genet 75:286–290
Ivens A, Moore GE, Chambers J, Arnason A, Jensson O, Bjornsson A, Williamson R (1988) X-linked cleft palate: the gene is localized between polymorphic DNA markers DXYS12 and DXS17. Hum Genet 78:356–358
Kärnä J (1986) Choroideremia. A clinical and genetic study of 84 Finnish patients and 126 female carriers. Acta Ophthalmol [Suppl] 176:1–68
Kidd KK, Bowcock AM, Schmidtke J, Track RK, Ricciuti F, Hutchings G, Bale A, Pearson P, Willard HF (1989) Report of the DNA committee and catalogs on cloned and mapped genes and DNA polymorphisms. (10th International Workshop on Human Gene Mapping) Cytogenet Cell Genet 51:622–947
Lander ES, Botstein D (1986) Strategies for studying heterogeneous genetic traits in humans by using a linkage map of restriction fragment length polymorphisms. Proc Natl Acad Sci USA 83:7353–7357
Mandel J-L, Willard HF, Nussbaum RL, Romeo G, Puck JM, Davies KE (1989) Report of the committee on the genetic constitution of the X chromosome. (10th International Workshop on Human Gene Mapping) Cytogenet Cell Genet 51:384–437
McKusick VA (1988) Mendelian inheritance in man, 8th edn. Johns Hopkins University Press, Baltimore London
Mohandas T, Shapiro LJ, Sparkes RS, Sparkes MC (1979) Regional assignment of the steroid sulfatase X-linked ichthyosis locus: implications for a noninactivated region on the short arm of human X chromosome. Proc Natl Acad Sci USA 76:5779–5783
Moore GE, Ivens A, Chambers J, Farrall M, Williamson R, Page DC, Bjornsson A, Arnason A, Jensson O (1987) Linkage of an X-chromosome cleft palate gene. Nature 326:91–92
Page D, Martinville B de, Barker D, Wyman A, White R, Francke U, Botstein D (1982) Single-copy sequence hybridizes to polymorphic and homologous loci on human X and Y chromosomes. Proc Natl Acad Sci USA 79:5352–5356
Rosenberg T, Schwartz M, Niebuhr E, Yang HM, Sardemann H, Andersen O, Lundsteen C (1986) Choroideremia in interstitial deletion of the X chromosome. Ophthalmic Paediatr Genet 7:205–210
Sankila EM, Chapelle A de la, Kärnä J, Forsius H, Frants R, Eriksson A (1987) Choroideremia: close linkage to DXYS1 and DXYS12 demonstrated by segregation analysis and historical-genealogical evidence. Clin Genet 31:315–322
Schwarz M, Yang HM, Niebuhr E, Rosenberg T, Page DC (1988) Regional localization of polymorphic DNA loci on the proximal long arm of the X chromosome using deletions associated with choroideremia. Hum Genet 78:156–160
Southern EM (1975) Detection of specific sequences among DNA ragments separated by gel electrophoresis. J Mol Biol 98:503–517
Sutherland GR, Gedeon AK, Haan EA, Woodroffe P, Mulley JC (1988) Linkage studies with the gene for an X-linked syndrome of mental retardation, microcephaly and spastic diplegia (MRX2). Am J Med Genet 30:493–508
Suthers GK, Turner G, Mulley JC (1988) A non-syndromal form of X-linked mental retardation (XLMR) is linked to DXS14. Am J Med Genet 30:485–491
Tabor A, Andersen O, Lundsteen C, Niebuhr E, Sardemann H (1983) Interstitial deletion in the ‘critical region’ of the long arm of the X chromosome in a mentally retarded boy and his mother. Hum Genet 64:196–199
Thode A, Partington MW, Yip M-Y, Chapman C, Richardson VF, Turner G (1988) A new syndrome with mental retardation, short stature and an Xq duplication. Am J Med Genet 30:239–250
Verellen C, De Meyer R, Freund M, Laterre C, Scholberg B, Frederic J (1977) Progressive muscular dystrophy of the Duchenne type in a young girl associated with an aberration of chromosome X (abstract). In: Proceedings of the 5th International Congress on Birth Defects. Excerpta Medica, Amsterdam, p 42
Wieacker P, Davies KE, Cooke HJ, Pearson PL, Williamson R, Bhattacharya S, Zimmer J, Ropers H-H (1984) 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 36:265–276
Wieringa B, Hustinx TWJ, Scheres J, Renier WO, Haar BGA ter (1985) Complex glycerol kinase deficiency syndrome explained as X-chromosomal deletion. Clin Genet 27:522–523
Yates JRW, Gillard EF, Cooke A, Colgan JM, Evans TJ, Ferguson-Smith MA (1987) A deletion of Xp21 maps congenital adrenal hypoplasia distal to glycerol kinase deficiency. Cytogenet Cell Genet 46:723–724
Zonana J, Roberts SH, Thomas NST, Harper PS (1988) Recognition and reanalysis of a cell line from a manifesting female with X-linked hypohidrotic ectodermal dysplasia and an X;autosome balanced translocation. J Med Genet 25:383–386
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Sankila, EM., Bruns, G.A.P., Schwartz, M. et al. DXS26 (HU16) is located in Xq21.1. Hum Genet 85, 117–120 (1990). https://doi.org/10.1007/BF00276335
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DOI: https://doi.org/10.1007/BF00276335