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Autosomal dominant congenital cataract is a clinically and genetically heterogeneous lens disease. Here we report the linkage of a locus for autosomal dominant posterior polar cataract ( CPP ) to the distal short arm of chromosome 1. To map the CPP locus we performed molecular genetic linkage analysis using microsatellite markers in a three-generation pedigree. After exclusion of 13 known loci and candidate lens genes for autosomal dominant cataract, we obtained significantly positive LOD scores for markers D1S508 (Z = 3.14, θ = 0) and D1S468 (Z = 2.71, θ = 0). Multipoint analysis gave a maximum LOD score of 3.48 (θ = 0.07) between markers D1S508 and D1S468 . From haplotype data, however, CPP probably lies in the telomeric interval D1S2845 -1pter, which includes the locus for the clinically distinct Volkman congenital cataract ( CCV ). This study provides the first evidence for genetic heterogeneity of autosomal dominant posterior polar cataract for which a locus had been linked previously to chromosome 16q. © 1997 Oxford University Press « Previous | Next Article » Table of Contents This Article Hum. Mol. Genet. (1997) 6 (1): 47-51. doi: 10.1093/hmg/6.1.47 » Abstract Free Full Text (HTML) Full Text (PDF) Classifications Article Services Article metrics Alert me when cited Alert me if corrected Find similar articles Similar articles in Web of Science Similar articles in PubMed Add to my archive Download citation Request Permissions Citing Articles Load citing article information Citing articles via CrossRef Citing articles via Scopus Citing articles via Web of Science Citing articles via Google Scholar Google Scholar Articles by Ionides, A. C. W. Articles by Shiels, A. Search for related content PubMed PubMed citation Articles by Ionides, A. C. W. Articles by Berry, V. Articles by Mackay, D. S. Articles by Moore, A. 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Human Molecular Genetics – Oxford University Press
Published: Jan 1, 1997
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