LINKAGE OF AUTOSOMAL RECESSIVE PRIMARY CONGENITAL GLAUCOMA TO THE GLC3A LOCUS IN ROMS (GYPSIES) FROM SLOVAKIA

The autosomal recessive form of primary congenital glaucoma (gene symb ol GLC3) has been recently mapped to two different loci, GLC3A (at 2p2 1), and GLC3B (at 1p36), respectively, on families of Turkish and Saud i Arabian provenance. This disorder is known to occur with an extremel y high incidence in Roms (Gypsies) in Slovakia. We performed a standar d linkage analysis on a sample of 7 Slovak Gypsy families comprising 1 8 affected members, and found significant linkage with four STR marker s 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 P 4501B1 gene, which has been recently identified as the principal cause of the disease. Roms represent the third population, in which the dis order has been mapped to GLC3A.