NOVEL POLYMORPHISMS IN THE BETA-IG-H3 GENE

We found three novel polymorphisms in the beta ig-h3 gene in patients with gelatinous drop-like corneal dystrophy: (1) a substitution from C TC to CTT at codon 472 that did not alter an amino acid; (2) a substit ution from GCG (Ala) to GTG (Val) at codon 480; and (3) a substitution from C to T in intron 10, three nucleotides upstream from the accepto r site of exon 11. The allelic frequencies of the C:T polymorphism at codon 472 and in intron 10 in the Japanese population were estimated t o be 0.778:0.222 and 0.954:0.046, respectively. Although the codon 480 substitution was not observed in 54 unrelated healthy Japanese people , the substation did not co-segregate with the disease phenotype, sugg esting that this was a rare, non-deleterious alteration.