A New Locus for Dominant “Zonular Pulverulent” Cataract, on Chromosome 13 |
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Authors: | Donna Mackay Alexander Ionides Vanita Berry Anthony Moore Shomi Bhattacharya Alan Shiels |
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Institution: | 1Department of Molecular Genetics, Institute of Ophthalmology London;2Moorfields Eye Hospital, London |
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Abstract: | Inherited cataract is a clinically and genetically heterogeneous disease that most often presents as a congenital autosomal dominant trait. Here we report the linkage of a new locus for dominant “zonular pulverulent” cataract (CZP) to chromosome 13. To map the CZPlocus we performed molecular-genetic linkage analysis using microsatellite markers in a five-generation English pedigree. After exclusion of eight known loci and several candidate genes for autosomal dominant cataract, we obtained significantly positive LOD scores (Z) for markers D13S175 (maximum Z Zmax] å 4.06; maximum recombination frequency umax] å 0) and D13S1236 (Zmax å 5.75, umax å 0). Multipoint analysis gave Zmaxå 6.62 (umax å 0) at marker D13S175. Haplotype data indicated that CZP probably lies in the centromeric region of chromosome 13, provocatively close to the gene for lens connexin46. |
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