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Updated: Jul 22, 2026
Characterization of Molecular Mechanisms of In vivo UVR Induced Cataract
Published on: November 28, 2012
A gene causing autosomal recessive cataract maps to the short arm of chromosome 3
1Department of Ophthalmology, Sapir Medical Center, Kfar Saba, Israel. epras@post.tau.ac.il
Background:
Fourteen loci have been associated with autosomal dominant cataract, but only one with the recessive form of the disease.
Objectives:
To find the chromosomal location of a gene causing autosomal recessive cataract in three inbred Arab families.
Methods:
A single nucleotide polymorphism-based genome-wide search, with the Effvmetrix GeneChip HuSNP genotyping array, was performed on a pooled DNA sample from six affected family members in a search for regions showing homozygosity. Using conventional microsatellite markers, regions of homozygosity were further analyzed in all the families.
Results:
A region on chromosome 3p spanning 43 megabases showed homozygosity with 13 consecutive SNPs. Three microsatellite markers from this region yielded lod scores > 3.00. A maximal two-point lod of 4.83 was obtained with the marker D3S1298 at theta = 0.004. Haplotype analysis placed the disease gene in a 20 Mb interval between D3S1768 and D3S2409.
Conclusions:
A gene causing autosomal recessive cataract maps to the short arm of chromosome 3.
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