title: Evidence of HLA-linked susceptibility gene(s) in primary congenital glaucoma.
abstract: The study included 82 individuals. Twenty-two were sporadic unrelated patients with Primary Congenital Glaucoma (PCG), and 60 were the members of 10 multiplex families. They were enrolled into two groups; GI:10 multiplex families; GII:32 unrelated patients with PCG (22 sporadic plus 10 probands of the multiplex families). The following were carried out for all the individuals: (1) detailed history; (2) ophthalmologic examination for diagnosis of PCG; (3) clinical examination to exclude any other disease; (4) HLA antigen typing using 30 antigens, 9 for A locus, 15 for B locus, and 6 for DR locus. Genetic and statistical analysis revealed the following: (1) significant association between HLA-B8 and PCG; (2) family studies revealed a susceptibility gene, probably recessive, predisposing to PCG; (3) this gene is linked to HLA, with strong linkage disequilibrium with B8.
authors.affiliation: Pediatric Department, Faculty of Medicine, Mansoura University, Egypt.
authors.forename: M
authors.initials: M
authors.lastname: Hafez
authors.forename: E E
authors.initials: EE
authors.lastname: Moustafa
authors.forename: T H
authors.initials: TH
authors.lastname: Mokpel
authors.forename: S
authors.initials: S
authors.lastname: Settein
authors.forename: H
authors.initials: H
authors.lastname: el-Serogy
mesh_terms: D004198:Disease Susceptibility; D005260:Female; D005901:Glaucoma / Q000151:congenital / Q000235:genetics*; D006680:HLA Antigens / Q000235:genetics*; D015795:HLA-B8 Antigen / Q000235:genetics; D006239:Haplotypes; D006801:Humans; D008126:Lod Score; D008297:Male; D010375:Pedigree
chemical_list: D006680:HLA Antigens; D015795:HLA-B8 Antigen