A gene causing autosomal recessive cataract maps to the short arm of chromosome 3.
BACKGROUND
Fourteen loci have been associated with autosomal dominant cataract, but only one with the recessive form of the disease.


OBJECTIVE
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.
Pras
E
E
Department of Ophthalmology, Sapir Medical Center, Kfar Saba, Israel. epras@post.tau.ac.il
Pras
E
E
Bakhan
T
T
Levy-Nissenbaum
E
E
Lahat
H
H
Assia
E I
EI
Garzozi
H J
HJ
Kastner
D L
DL
Goldman
B
B
Frydman
M
M
D018912:Arabs / Q000235:genetics; D002386:Cataract / Q000235:genetics*; D002874:Chromosome Mapping / Q000379:methods*; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D003241:Consanguinity; D005260:Female; D008040:Genetic Linkage; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D020641:Polymorphism, Single Nucleotide