Mapping of a gene for autosomal dominant juvenile-onset open-angle glaucoma to chromosome Iq.
A large Caucasian family is presented, in which a juvenile-onset form of open-angle glaucoma is transmitted in an autosomal dominant fashion. Sixteen affected family members were identified from 31 at-risk individuals descended from the affected founder. Affected patients developed high intraocular pressures (sometimes > 40 mm Hg) within the first 2 decades of life. Linkage analysis between the disease phenotype and 12 microsatellite repeat markers located on chromosome 1q gave a maximum lod score of 8.38 at a recombination fraction of zero for marker D1S210. Analysis of recombinant haplotypes suggests a total inclusion region of about 14 cM between markers D1S194 and D1S218 at 1q21-q31. This represents the second juvenile-glaucoma family, in which the disease has been mapped to the long arm of chromosome 1.
Richards
J E
JE
Department of Ophthalmology, University of Michigan, Ann Arbor 48105.
Lichter
P R
PR
Boehnke
M
M
Uro
J L
JL
Torrez
D
D
Wong
D
D
Johnson
A T
AT
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D001483:Base Sequence; D002648:Child; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1; D017931:DNA Primers; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D005902:Glaucoma, Open-Angle / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D010641:Phenotype
D017931:DNA Primers