Linkage of Autosomal Recessive Primary Congenital Glaucoma to the GLC3A Locus in Roms (Gypsies) from Slovakia

• Published in: Human heredity Vol. 48; no. 1; pp. 30 - 33
• Main Authors: Plášilová, Martina, Feráková, Eva, Kádasi, Ludovít, Poláková, Helena, Gerinec, Anton, Ott, Jürg, Ferák, Vladimír
• Format: Journal Article
• Language: English
• Published: Basel, Switzerland S. Karger AG 01.01.1998; Karger
• Subjects: Biological and medical sciences; Chromosome Mapping; Chromosomes, Human, Pair 2; Female; Genes, Recessive; Genetic Linkage; Glaucoma; Glaucoma - congenital; Glaucoma - genetics; Glaucoma and intraocular pressure; Homozygote; Humans; Male; Medical sciences; Ophthalmology; Original Paper; Pedigree; Roma; Slovakia; Europe; Slovakia; Primary congenital glaucoma; Gypsies; Genetic linkage; Genetic mapping; Human; Eye disease; Linkage; Glaucoma (eye); Chromosome A2; Congenital disease; Ethnic group
• ISSN: 0001-5652; 1423-0062
• DOI: 10.1159/000022778

The autosomal recessive form of primary congenital glaucoma (gene symbol GLC3) has been recently mapped to two different loci, GLC3A (at 2p21), and GLC3B (at 1p36), respectively, on families of Turkish and Saudi Arabian provenance. This disorder is known to occur with an extremely high incidence in Roms (Gypsies) in Slovakia. We performed a standard linkage analysis on a sample of 7 Slovak Gypsy families comprising 18 affected members, and found significant linkage with four STR markers from the chromosomal region of 2p21 (D2S1788, D2S1346, D2S2328, and D2S1356), without heterogeneity. This finding demonstrates that in the Rom population of Slovakia, primary congenital glaucoma is due to the locus GLC3A, and consequently, to the mutation(s) in the cytochrome P4501B1 gene, which has been recently identified as the principal cause of the disease. Roms represent the third population, in which the disorder has been mapped to GLC3A.