A new locus for dominant 'zonular pulverulent' cataract, on chromosome 13

Donna Mackay, Alexander Ionides, Vanita Berry, Anthony Moore, Shomi Bhattacharya, Alan Shiels

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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 CZP locus 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 [Z(max)= 4.06; maximum recombination frequency 10(max)]= 0) and D13S1236 (Z(max)= 5.75, 0(max)= 0). Multipoint analysis gave Z (max) = 6.62 (0(max)= 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.

Original languageEnglish
Pages (from-to)1474-1478
Number of pages5
JournalAmerican journal of human genetics
Issue number6
StatePublished - Jun 1997


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