December 2002
Volume 43, Issue 13
Free
ARVO Annual Meeting Abstract  |   December 2002
Mapping of a Family With Autosomal Dominant Congenital Cataract (ADCC) to the Haptoglobin Locus and Refinement of the Genetic Interval Using Microsatellite Markers
MA Reddy; V Berry; P Francis; S Thompson; AT Moore; SS Bhattacharya
Author Affiliations & Notes
  • MA Reddy
    Molecular Genetics Institute of Ophthalmology London United Kingdom
  • V Berry
    Molecular Genetics Institute of Ophthalmology London United Kingdom
  • P Francis
    Ophthalmology St Thomas' Hospital London United Kingdom
  • S Thompson
    Ophthalmology Dudley Guest Hospital Birmingham United Kingdom
  • AT Moore
    Molecular Genetics Institute of Ophthalmology London United Kingdom
  • SS Bhattacharya
    Molecular Genetics Institute of Ophthalmology London United Kingdom
  • Footnotes
    Commercial Relationships   M.A. Reddy, None; V. Berry, None; P. Francis, None; S. Thompson, None; A.T. Moore, None; S.S. Bhattacharya, None. Grant Identification: Wellcome grant 063969/Z/01
Investigative Ophthalmology & Visual Science December 2002, Vol.43, 478. doi:
  • Views
  • Share
  • Tools
    • Alerts
      User Alerts
      You are adding an alert for:
      Mapping of a Family With Autosomal Dominant Congenital Cataract (ADCC) to the Haptoglobin Locus and Refinement of the Genetic Interval Using Microsatellite Markers
      You will receive an email whenever this article is corrected, updated, or cited in the literature. You can manage this and all other alerts in My Account
      The alert will be sent to:
      ×
      This feature is available to authenticated users only.
      Sign In or Create an Account ×
    • Get Citation
      Citation

      MA Reddy, V Berry, P Francis, S Thompson, AT Moore, SS Bhattacharya; Mapping of a Family With Autosomal Dominant Congenital Cataract (ADCC) to the Haptoglobin Locus and Refinement of the Genetic Interval Using Microsatellite Markers . Invest. Ophthalmol. Vis. Sci. 2002;43(13):478.

      Download citation file:

      © ARVO (1962-2015); The Authors (2016-present)

      ×
    • Get Permissions
  • Supplements
Abstract

Abstract: : Purpose: To map the genetic locus of ADCC in a four generation British family. Methods: 24 members of a family (14 affected, 5 unaffected) with congenital cataract inherited in an autosomal dominant manner agreed to take part in the study . Ethical committee approval and informed consent was obtained from all participants.A full clinical examination was performed, pedigree data collated and leukocyte DNA extracted from venous blood for subsequent molecular genetic analysis. Linkage analysis by PCR-based microsatellite marker genotyping was used to identify the disease locus. Results: The cataract had variable morphology with progressive zonular cataract the predominant phenotype. Most affected individuals required surgery in the first decade of life. Significantly positive two-point lod scores were obtained for the marker D16S3095 (Zmax=3.50 at θ=0) and two flanking markers (D16S3031 and D16S2624) refined the disease region to a 2.3 cM region on 16q22. Conclusions: The cataract locus close to the haptoglobin gene was one of the first cataract loci (Marner cataract) to be reported . This is the third family to link to this region, but the first to refine the interval with the use of microsatellite markers. Sequencing of candidate genes in the region is underway.

Keywords: 338 cataract • 457 linkage analysis 
© 2002, 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 © 2015 Association for Research in Vision and Ophthalmology.
×
×

This PDF is available to Subscribers Only

Sign in or purchase a subscription to access this content. ×

You must be signed into an individual account to use this feature.

×