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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)
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.
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