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
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:
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      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.

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

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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 
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