May 2005
Volume 46, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2005
The ‘X–Linked’ Severe Form of Myopia Locus at Xq28 (MYP1): Narrowing of the Critical Region and Exclusion of Twelve Known Genes Localized in the Interval
R. Uppala; R. Lyle; R. Raval; J.–L. Blouin; R. Singh; J.V. U.C. Patel5; J.V. Solanki; M.A. Morris; V. Himabindu,P6; Vittalrao; V6; Satti; R. Uppala; S.E. Antonarakis
Author Affiliations & Notes
  • R. Uppala
    Division of Medical Genetics, University of Geneva Medical School, Geneva, Switzerland
    Dept. of Molecular Genetics, Green Cross Blood bank & Genetic Research Centre, Ahmedabad, India
  • R. Lyle
    Division of Medical Genetics, University of Geneva Medical School, Geneva, Switzerland
  • R. Raval
    Dept. of Biochemistry, Gujarat Cancer and Research Institute, Ahmedabad, India
  • J.–L. Blouin
    Division of Medical Genetics, University of Geneva Medical School, Geneva, Switzerland
  • R. Singh
    Dr. P.L. Desai Eye Center, Navrangpura, Ahmedabad, India
  • J.V. U.C. Patel5
    Division of Medical Genetics, University of Geneva Medical School, Geneva, Switzerland
  • J.V. Solanki
    Dept. of Animal Genetics & Breeding, Veterinary College, Gujarat Agriculture University, Anand, India
  • M.A. Morris
    Division of Medical Genetics, University of Geneva Medical School, Geneva, Switzerland
  • V. Himabindu,P6
    Division of Medical Genetics, University of Geneva Medical School, Geneva, Switzerland
  • Vittalrao
    Division of Medical Genetics, University of Geneva Medical School, Geneva, Switzerland
  • V6
    Division of Medical Genetics, University of Geneva Medical School, Geneva, Switzerland
  • Satti
    Dept. of Genetics, Osmania University Ophthalmology Center, Hyderabad, India
  • R. Uppala
    Department of Genetics and Molecular Biology, Green Cross Blood Bank, Ahmedabad, India
  • S.E. Antonarakis
    Division of Medical Genetics, University of Geneva Medical School, Geneva, Switzerland
  • Footnotes
    Commercial Relationships  R. Uppala, None; R. Lyle, None; R. Raval, None; J. Blouin, None; R. Singh, None; J.V. U.C. Patel5, J.V.Solanki, None; M.A. Morris, None; V. Himabindu,P6., Vittalrao, V6, Satti, None; R. Uppala, None; S.E. Antonarakis, None.
  • Footnotes
    Support  Green Cross Blood Bank & Genetic research Centre 2. University of Geneva Medical School, Geneva
Investigative Ophthalmology & Visual Science May 2005, Vol.46, 3814. doi:
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      R. Uppala, R. Lyle, R. Raval, J.–L. Blouin, R. Singh, J.V. U.C. Patel5, J.V. Solanki, M.A. Morris, V. Himabindu,P6, Vittalrao, V6, Satti, R. Uppala, S.E. Antonarakis; The ‘X–Linked’ Severe Form of Myopia Locus at Xq28 (MYP1): Narrowing of the Critical Region and Exclusion of Twelve Known Genes Localized in the Interval . Invest. Ophthalmol. Vis. Sci. 2005;46(13):3814.

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Abstract

Abstract: : Purpose: Myopia is a common vision problem experienced by approximately one–third of the general population with a prevalence of 0.5–2.5% in Western Europe and US populations. Families with X–linked, autosomal dominant and recessive modes of inheritance have been reported. The genes responsible for MYP1, MYP2, MYP3, MYP4, MYP5 and MYP6 have been mapped to chromosomes Xq28(Clin Genet.38: 281–6, 1990); 18p11.31(Am J Hum Genet 63: 109–119, 1998); 12q21–q23(Am. J. Hum. Genet. 63: 1419–24, 1998); 7q36(J. Med. Genet. 39: 118–24, 2002); 17q21–q22(Invest. Ophthal. Vis. Sci. 44: 1830–36, 2003); and 22q12(Am. J. Hum. Genet. 75: 448–59, 2004) respectively, but no specific gene mutations have yet been identified. We studied two large four–generation Indian pedigrees(UR006 & UR077) with isolated, non–syndromic myopia, with apparent X–linked inheritance (MYP1; MIM310460). The anomaly was only present in male members of the pedigree. The degree of myopia was variable ranged from –6 to –16.5 D with a mean of –13.33 D. Methods: In order to map the myopia locus in these families, we performed linkage analysis on 41 samples, 12 affected and 29 normals in both families, using polymorphic microsatellite markers covering the entire X chromosome. Results: Marker DXYS154, located in the pseudoautosomal region (PAR) in distal Xq28, showed no recombination with the phenotype with a maximum LOD score of 3.99 at theta = 0 under an autosomal recessive model. Other markers in the region (near but not within the PAR) that showed no recombination with the phenotype included DXS1108, DXS8087 and F8i13. Conclusions: Observation of recombination in family UR006 refined the disease locus to 1.2 cM region flanked by markers DXS1073 and DXYS154. Mutations in the CTAG2, GAB3, MPP1, F8Bver, VBP1, RAB39B, CLIC2 and TMLHE and pseudoautosomal (PAR) HSRY3, SYBL1, IL9R, SPRY3, CXYorf1 were excluded by direct sequence analysis.

Keywords: gene mapping • genetics • myopia 
© 2005, The Association for Research in Vision and Ophthalmology, Inc., all rights reserved. Permission to republish any abstract or part of an abstract in any form must be obtained in writing from the ARVO Office prior to publication.
Copyright © 2025 Association for Research in Vision and Ophthalmology.
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