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.
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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
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
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
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
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
Dahl N, Goonewardena P, Chotai J, Anvret M, Pettersson U (1988) DNA linkage analysis of X-linked retinoschisis. Hum Genet 78:228–232
Dausset J (1986) Le centre delude du polymorphisme humain. Presse Med 15:1801–1802
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
Drayna D, White R (1985) The genetic linkage map of the human X chromosome. Science 230:753–758
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
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
Gellert G, Petersen J, Krawczak M, Zoll B (1988) Linkage relationship between retinoschisis and four marker loci. Hum Genet 79:382–384
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
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
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
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
Lathrop GM, Lalouel JM (1984) Easy calculations of lod score and genetic risks on small computers. Am J Hum Genet 36:460–465
Lathrop GM, Lalouel JM, Julier C, Ott J (1984) Strategies for multipoint linkage analysis in humans. Proc Natl Acad Sci USA 81:3443–3446
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
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
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
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
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
McKusick VA (1986) Mendelian inheritance in man, 7th edn. Johns Hopkins University Press, Baltimore
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
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
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
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
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
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
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
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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
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DOI: https://doi.org/10.1007/BF00201548