A new locus for dominant "zonular pulverulent" cataract, on chromosome 13.
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.
Mackay
D
D
Department of Molecular Genetics, Institute of Ophthalmology, London.
Ionides
A
A
Berry
V
V
Moore
A
A
Bhattacharya
S
S
Shiels
A
A
D002386:Cataract / Q000235:genetics*; D002874:Chromosome Mapping; D002882:Chromosomes, Human, Pair 13; D004247:DNA / Q000097:blood; D004739:England; D005260:Female; D005799:Genes, Dominant; D005819:Genetic Markers; D006239:Haplotypes; D006801:Humans; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011336:Probability; D011995:Recombination, Genetic
D005819:Genetic Markers; D004247:DNA