Skip to main content
Log in

Genetic mapping of 12 marker loci in the Xp22.3-p21.2 region

  • Original Investigations
  • Published:
Human Genetics Aims and scope Submit manuscript

Summary

To provide a more precise genetic map of the p22.3–p21.2 region on the short arm of the human X chromosome, we performed multilocus linkage studies in an expanded database including 31 retinoschisis families and 40 normal families. Twelve loci from this region were examined. Although significant lod scores were observed between various pairs of markers by two-point linkage analysis, the confidence limits were found to be broad. The most likely gene order on the basis of multilocus analysis was Xpter-DXS89-DXS85-DXS16-(DXS207, DXS43)-DXS274-(DXS41, DXS92)-ZFX-DXS164-Xcen. All other alternative orders were excluded by odds of at least 40∶1.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Similar content being viewed by others

References

  • Alitalo T, Kärnä J, Forsius H, Chapelle A de la (1987) X-linked retionschisis is closely linked to DXS41 and DXS16 but not DXS85. Clin Genet 32:192–195

    Google Scholar 

  • Alitalo T, Forsius H, Kärnä J, Frants R, Eriksson AW, Wood S, Kruse TA, Chapelle A de la (1988) Linkage relationships and gene order around the locus for X-linked retinoschisis. Am J Hum Genet 43:476–483

    Google Scholar 

  • Alitalo T, Kruse TA, Chapelle A de la (1991) Refined localization of the gene causing X-linked juvenile retinoschisis. Genomics (in press)

  • Brown CJ, Mahtani MM, Willard HF (1988) Genetic mapping of four DNA markers (DXS16, DXS43, DXS85, and DXS143) from the p22 region of the human X chromosome. Hum Genet 80:296–298

    Google Scholar 

  • Brown RM, Dahl H-HM, Brown GK (1989) X-chromosome localization of the functional gene for the E1-alpha subunit of the human pyruvate dehydrogenase complex. Genomics 4:174–181

    Google Scholar 

  • Conneally PM, Edwards JH, Kidd KK, Lalouel JM, Morton NE, Ott J, White R (1985) Report of the committee on methods of linkage analysis and reporting. Cytogenet Cell Genet 40:356–359

    Google Scholar 

  • Dahl N, Goonewardena P, Chotai J, Anvret M, Pettersson U (1988) DNA linkage analysis of X-linked retinoschisis. Hum Genet 78:228–232

    Google Scholar 

  • Dausset J (1986) Le centre delude du polymorphisme humain. Presse Med 15:1801–1802

    Google Scholar 

  • Donis-Keller H, Green P, Helms C, Cartinhour S, Weiffenbach B, Stephens K, Keith TP, Bowden DW, Smith DR, Lander ES, Botstein D, Akots G, Rediker KS, Gravius T, Brown VA, Rising MB, Parker C, Powers JA, Watt DE (1987) A genetic linkage map of the human genome. Cell 51:319–337

    Google Scholar 

  • Drayna D, White R (1985) The genetic linkage map of the human X chromosome. Science 230:753–758

    Google Scholar 

  • Econs MJ, Pericak-Vance MA, Betz H, Bartlett RJ, Speer MC, Drezner MK (1990) The human glycine receptor: a new probe that is linked to the X-linked hypophosphatemic rickets gene. Genomics 7:439–441

    Google Scholar 

  • Endo H, Hasegawa K, Narisawa K, Tada K, Kagawa Y, Ohta S (1989) Defective gene in lactic acidosis: abnormal pyruvate dehydrogenase E1-alpha-subunit caused by a frame shift. Am J Hum Genet 44:358–364

    Google Scholar 

  • Gellert G, Petersen J, Krawczak M, Zoll B (1988) Linkage relationship between retinoschisis and four marker loci. Hum Genet 79:382–384

    Google Scholar 

  • Hanauer A, Alembik Y, Gilgenkrantz S, Mujica P, Nivelon-Chevallier A, Pembrey ME, Young ID, Mandel JL (1988) Probable localisation of the Coffin-Lowry locus in Xp22. 2–p22. 1 by multipoint linkage analysis. Am J Med Genet 30:523–530

    Google Scholar 

  • Keats B, Ott J, Conneally M (1989) Report of the committee on linkage and gene order. (10th International Workshop on Human Gene Mapping) Cytogenet Cell Genet 51:459–502

    Google Scholar 

  • Kidd JR, Castiglione CM, Davies KE, Pakstis AJ, Gusella J, Sparkes RS, Pearson P, Willard H, Kidd KK (1985) Mapping the locus for X-linked ocular albinism. Am J Hum Genet 37:161

    Google Scholar 

  • 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 of cloned and mapped genes and DNA polymorphisms. (10th International Workshop on Human Gene Mapping) Cytogenet Cell Genet 51:622–947

    Google Scholar 

  • Lathrop GM, Lalouel JM (1984) Easy calculations of lod score and genetic risks on small computers. Am J Hum Genet 36:460–465

    Google Scholar 

  • Lathrop GM, Lalouel JM, Julier C, Ott J (1984) Strategies for multipoint linkage analysis in humans. Proc Natl Acad Sci USA 81:3443–3446

    Google Scholar 

  • Lau EC, Mohandas T, Slavkin HC, Snead ML (1987) Chromosomal localization of amelogenin gene on the X and/or Y chromosomes. J Cell Biol 105:241a

    Google Scholar 

  • Lau EC, Mohandas TK, Shapiro LJ, Slavkin HC, Snead ML (1989) Human and mouse amelogenin gene loci are on the sex chromosomes. Genomics 4:162–168

    Google Scholar 

  • Mächler M, Frey D, Gal A, Orth U, Wienker TF, Fanconi A, Schmid W (1986) X-linked dominant hypophosphatemia is closely linked to DNA markers DXS41 and DXS43 at Xp22. Hum Genet 73:271–275

    Google Scholar 

  • 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

    Google Scholar 

  • Martinville B de, Graham JMJ Jr, Risdahl JS, Rich SS, Pearson PL, Miller FS III, King RA (1987) Genetic analysis in X-linked ocular albinism. (9th International Workshop on Human Gene Mapping) Cytogenet Cell Genet 46:605–606

    Google Scholar 

  • McKusick VA (1986) Mendelian inheritance in man, 7th edn. Johns Hopkins University Press, Baltimore

    Google Scholar 

  • Page DC, Disteche CM, Simpson EM, Chapelle A de la, Andersson M, Alitalo T, Brown LG, Green P, Akots G (1990) Chromosomal localization of ZFX — a human gene that escapes X inactivation — and its murine homologs. Genomics 7:37–46

    Google Scholar 

  • Partington MW, Mulley JC, Sutherland GR, Thode A, Turner G (1988) A family with the Coffin Lowry syndrome revisited: localization of CLS to Xp21-pter. Am J Med Genet 30:509–521

    Google Scholar 

  • Read AP, Thakker RV, Davies KE, Mountford RC, Brenton DP, Davies M, Glorieux F, Harris R, Hendy GN, King A, McGlade S, Peacock CJ, Smith R, O'Riordan JLH (1986) Mapping of human X-linked hypophosphataemic rickets by multilocus linkage analysis. Hum Genet 73:267–270

    Google Scholar 

  • Ropers H-H, Zuffardi O, Bianchi E, Tiepolo L (1982) Agenesis of orpus collosum, ocular, and skeletal anomalies (X-linked dominant Aicardi's syndrome) in a girl with balanced X/3 translocation. Hum Genet 61:364–368

    Google Scholar 

  • Szpiro-Tapia S, Sefiani A, Guilloud-Bataille M, Heuertz S, LeMarec B, Frézal J, Maroteaux P, Hors-Cayla MC (1988) Spondyloepiphyseal dysplasia tarda: linkage with genetic markers from the distal short arm of the X chromosome. Hum Genet 81:61–63

    Google Scholar 

  • Thakker RV, Read AP, Davies KE, Whyte MP, Weksberg R, Glorieux F, Davies M, Mountford RC, Harris R, King A, Kim GS, Fraser D, Kooh SW, O'Riordan JLH (1987) Bridging markers defining the map position of X linked hypophosphataemic rickets. J Med Genet 24:756–760

    Google Scholar 

  • Wieacker P, Wienker TF, Dallapiccola B, Bender K, Davies KE, Ropers HH (1983) Linkage relationships between retinoschisis, Xg, and a cloned DNA sequence from the distal short arm of the X chromosome. Hum Genet 64:143–145

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

About this article

Cite this article

Alitalo, T., Kruse, T.A., Ahrens, P. et al. Genetic mapping of 12 marker loci in the Xp22.3-p21.2 region. Hum Genet 86, 599–603 (1991). https://doi.org/10.1007/BF00201548

Download citation

  • Received:

  • Revised:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00201548

Keywords

Navigation