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. 1997 Jun;60(6):1474–1478. doi: 10.1086/515468

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

D Mackay 1, A Ionides 1, V Berry 1, A Moore 1, S Bhattacharya 1, A Shiels 1
PMCID: PMC1716126  PMID: 9199569

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 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 [Zmax] = 4.06; maximum recombination frequency [theta max] = 0) and D13S1236 (Zmax = 5.75, theta max = 0). Multipoint analysis gave Zmax = 6.62 (theta 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.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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