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Linkage analysis of X-linked cleft palate and ankyloglossia in Manitoba Mennonite and British Columbia Native kindreds

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Abstract

A locus (CPX) responsible for X-linked cleft palate and ankyloglossia was previously mapped to the proximal long arm of the X chromosome through DNA marker linkage studies in two large kindreds: an Icelandic family and a British Columbia (B.C.) Native family. In this study, additional linkage analyses have been performed in the B.C. family and in a newly identified Manitoba Mennonite family with X-linked cleft palate and ankyloglossia. The Manitoba CPX locus maps to the same region as Icelandic and B.C. CPX. Two-point disease-tomarker linkage analyses in the Manitoba family indicate a maximum lod score (Zmax) between CPX and DXS349 (Zmax=3.33 at \(\hat \theta\)). In multipoint linkage analysis, combined data from the B.C. and Manitoba families suggest that the most likely location for CPX is at DXS447 in Xq21.1 (multipoint Z=13.5). The support interval for CPX at DXS447 extends approximately from PGK1 to DXYS1 and includes a newly isolated polymorphic locus DXS1109.

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References

  • Bixler D (1987) Letter to the editor: X-linked cleft palate. Am J Med Genet 28:503–505

    Google Scholar 

  • Bjornsson A, Arnason A, Tippet P (1989) X-linked cleft palate and ankyloglossia in an Icelandic family. Cleft Palate J 26:3–8

    Google Scholar 

  • Brooks-Wilson AR, Goodfellow PN, Povey S, Nevanlinna HA, Jong PJ de, Goodfellow PJ (1990) Rapid cloning and characterization of new chromosome 10 DNA markers by Aluelement-mediated PCR. Genomics 7:614–620

    Google Scholar 

  • Brooks-Wilson AR, Smailus DE, Weier H-UG, Goodfellow PJ (1992) Human repeat element-mediated PCR: cloning and mapping of chromosome 10 DNA markers. Genomics 13:409–414

    Google Scholar 

  • Browne DL, Zonana J, Litt M (1991) Dinucleotide repeat polymorphism at the DXYS1X locus. Nucleic Acids Res 1:1721

    Google Scholar 

  • Burright EN, Reyner EL, Gorski JL (1991) Human-specific amplification of radiation hybrid DNA fractionated by pulsed-field gel electrophoresis. Nucleic Acids Res 19:401–402

    Google Scholar 

  • Calnan J (1954) Submucous cleft palate. Br J Plast Surg 6:264–272

    Google Scholar 

  • Carle GF, Frank M, Olson MV (1986) Electrophoretic separations of large DNA molecules by periodic inversion of the electric field. Science 232:65

    Google Scholar 

  • Cremers FPM, Pol TJR van de, Wieringa B, Hofker MH, Pearson PL, Pfeiffer RA, Mikkelsen M, Tabor A, Ropers HH (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

    Google Scholar 

  • Cremers FPM, Pol DJR van de, Diergaarde PJ, Wieringa B, Nussbaum RL, Schwartz M, Ropers H-H (1989) Physical fine mapping of the chorderemia locus using Xq21 deletions associated with complex syndromes. Genomics 4:41–46

    Google Scholar 

  • Cremers FPM, Pol DJR van de, Kerkhoff LPM van, Wieringa B, Ropers H-H (1990) Cloning of a gene that is rearranged in patients with choroideraemia. Nature 347:674–677

    Google Scholar 

  • Diewert VM (1986) Craniofacial growth during human secondary palate formation and potential relevance of experimental cleft palate observations. J Craniofac Genet Dev Biol (Suppl) 2:267–276

    Google Scholar 

  • Feinberg AP, Vogelstein B (1984) A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity: addendum. Anal Biochem 137:266–267

    Google Scholar 

  • Fogh-Andersen P (1942) Inheritance of hare lip and cleft palate. Arnold Busck, Copenhagen

    Google Scholar 

  • Fraser FC (1980) The William Allan memorial award address: evolution of a palatable multifactorial threshold model. Am J Hum Genet 32:796–813

    Google Scholar 

  • Gorski SM, Adams KJ, Birch PH, Friedman JM, Goodfellow PJ (1992) The gene responsible for X-linked cleft palate (CPX) in a British Columbia Native kindred is localized between PGK1 and DXYS1. Am J Hum Genet 50:1129–1136

    Google Scholar 

  • Goss SJ, Harris H (1975) New mothod for mapping genes in human chromosomes. Nature 255:680–684

    Google Scholar 

  • Haldane JBS (1919) The combination of linkage values, and the calculation of distances between the loci of linked factors. J Genet 8:299–309

    Google Scholar 

  • Hall BD (1987) Letter to the editor: a further X-linked isolated nonsyndromic cleft palate family with a nonexpressing obligate affected male. Am J Med Genet 26:239–240

    Google Scholar 

  • Herrmann BG, Barlow DP, Lehrach H (1987) A large inverted duplication allows homologous recombination between chromosomes heterozygous for the proximal t complex inversion. Cell 48:813–825

    Google Scholar 

  • Hodge SE, Greenberg DA (1992) Sensitivity of lod scores to changes in diagnostic status. Am J Hum Genet 50:1053–1066

    Google Scholar 

  • 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

    Google Scholar 

  • Jenkins M, Stady C (1980) Dominant inheritance of cleft of the soft palate. Hum Genet 53:341–342

    Google Scholar 

  • Johnston MC, Bronsky PT (1991) Animal models for human craniofacial malformations J Craniofac Genet Dev Biol 11:277–291

    Google Scholar 

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

    Google Scholar 

  • Keats BJB, Sherman SL, Ott J (1990) Report of the committee on linkage and gene order. Cytogenet Cell Genet 55:387–394

    Google Scholar 

  • Lathrop GM, Lalouel JM, Julier C, Ott J (1984) Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci USA 8:3443–3446

    Google Scholar 

  • Lathrop GM, Lalouel JM, Julier C, Ott J (1985) Multilocus linkage analysis in humans: detection of linkage and estimation of recombination. Am J Hum Genet 37:482–498

    Google Scholar 

  • Ledbetter SA, Nelson DL, Warren ST, Ledbetter DH (1990) Rapid isolation of DNA probes within specific chromosome regions by interspersed repetitive sequence polymerase chain reaction. Genomics 6:475–481

    Google Scholar 

  • Lowry (1970) Sex-linked cleft palate in a British Columbia Indian Family. Pediatrics 46:123–128

    Google Scholar 

  • Lowry RB (1971) X-linked cleft palate. Birth Defects 7:76–79

    Google Scholar 

  • Lowry RB, Courtemanche AD, MacDonald C (1973) Submucous cleft palate and the general practitioner. CMA J 109:995–997

    Google Scholar 

  • Mamelka PM, Dyke B, MacCluer JW (1988) Pedigree/Draw for the Apple Macintosh, Version 4. 0 (manual). Southwest Foundation for Biomedical Research, San Antonio

    Google Scholar 

  • Mandel JL, Willard HF, Nussbaum RL, Romeo G, Puck JM, Davies KE (1989) Report of the committee on the genetic constitution of the X chromosome. Cytogenet Cell Genet 51:384–437

    Google Scholar 

  • Maniatis T, Fritsch EF, Sambrook J (1982) Molecular cloning: a laboratory manual. Cold Spring Harbor Laboratory, Cold Spring Harbor, NY

    Google Scholar 

  • McWilliams BJ (1991) Submucous cleft of the palate: how likely are they to be symptomatic? Cleft Palate-Craniofacial J 28:247–249

    Google Scholar 

  • Merry DE, Lesko JG, Sosnoski DM, Lewis RA, Lubinsky M, Trask B, Engh G van den, Collins FS, Nussbaum RL (1989) Choroderemia and deafness with stapes fixation: a contiguous gene deletion syndrome in Xq21. Am J Hum Genet 45:530–540

    Google Scholar 

  • Molloy CM, Pol TJR van de, Brohet RM, Ropers H-H, Cremers FPM (1992) Three RFLPs for pZ11 (DXS540) in the choroideremia gene at Xq21. 2. Nucleic Acids Res 20:1434

    Google Scholar 

  • 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

    Google Scholar 

  • Muscatelli F, Verna JM, Philip N, Moncla A, Mattei MG, Mattei JF, Fontes M (1992) Physical mapping of an Xq-proximal interstitial duplication in a male. Hum Genet 88:691–694

    Google Scholar 

  • Nelson DL, Ledbetter SA, Corbo L, Victoria MF, Ramirez-Solis R, Webster TD, Ledbetter DH, Caskey CT (1989) Alu polymerase chain reaction: a method for rapid isolation of humanspecific sequences from complex DNA sources. Proc Natl Acad Sci USA 86:6686–6690

    Google Scholar 

  • Nora JJ, Fraser FC (1989) Medical genetics: principles and practice, 3 rd edn. Lea and Febiger, Philadelphia

    Google Scholar 

  • Page D, De Martinville B, 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

    Google Scholar 

  • Philippe C, Cremers FPM, Chery M, Bach I, Abbadi N, Ropers HH, Gilgenkrantz S (1993) Physical mapping of DNA markers in the q13–q22 region of the human X chromosome. Genomics 17:147–152

    Google Scholar 

  • Puck JM, Bailey LC, Conley ME (1991) Update on linkage of Xlinked severe combined immunodeficiency (SCIDX1) to loci in Xq13 (abstract). (Human Gene Mapping 11) Cytogenet Cell Genet 58:2082–2083

    Google Scholar 

  • Rollnick BR, Kaye CI (1986) Mendelian inheritance of isolated nonsyndromic cleft palate. Am J Med Genet 24:465–473

    Google Scholar 

  • Rushton AR (1979) Sex-linked inheritance of cleft palate. Hum Genet 48:179–181

    Google Scholar 

  • Sambrook J, Fritsch EF, Maniatis T (1989) Molecular cloning: a laboratory manual. Cold Spring Harbor Laboratory, Cold Spring Harbor, NY

    Google Scholar 

  • Schwartz S, Schwartz MF, Panny SR, Peterson CJ, Waters E, Cohen MM (1986) Inherited X-chromosome inverted tandem duplication in a male traced to a grandparental mitotic error. Am J Hum Genet 38:741–750

    Google Scholar 

  • Stanier PM, Newton R, Ivens A, Arnason A, Bjornsson A, Moore GE (1991) New polymorphisms in the region of X-linked cleft palate and ankyloglossia (abstract). (Human Gene Mapping 11) Cytogenet Cell Genet 58:2086

    Google Scholar 

  • Stanier PM, Forbes SA, Arnason A, Bjornsson A, Sveinbjornsdottir E, Williamson R, Moore G (1993) The localization of a gene causing X-linked cleft palate and ankyloglossia (CPX) in an Icelandic kindred is between DXS326 and DXYS1X. Genomics 17:549–555

    Google Scholar 

  • Steinbach P, Horstmann W, Scholz W (1980) Tandem duplication dup(X) (q13q22) in a male proband inherited from the mother showing mosaicism of X-inactivation. Hum Genet 54:309–313

    Google Scholar 

  • Vejerslev LO, Rix M, Jespersen B (1985) Inherited tandem duplication dup(X) (q131–q212) in a male proband. Clin Genet 27:276–281

    Google Scholar 

  • Warden PJ (1991) Ankyloglossia: a review of the literature. Gen Dent 39:252–253

    Google Scholar 

  • Wicking C, Williamson B (1991) From linked marker to gene. Trends Genet 7:288–293

    Google Scholar 

  • Williamson R, Bowcock A, Kold K, Pearson P, Schmidtke J, Ceverha P, Chipperfield M, et al. (1991) Report of the DNA committee and catalogues of cloned and mapped genes, markers formatted for PCR and DNA polymorphisms. Cytogenet Cell Genet 58:1190–1832

    Google Scholar 

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Gorski, S.M., Adams, K.J., Birch, P.H. et al. Linkage analysis of X-linked cleft palate and ankyloglossia in Manitoba Mennonite and British Columbia Native kindreds. Hum Genet 94, 141–148 (1994). https://doi.org/10.1007/BF00202859

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  • DOI: https://doi.org/10.1007/BF00202859

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