Abstract
We found three novel polymorphisms in the βig-h3 gene in patients with gelatinous drop-like corneal dystrophy: (1) a substitution from CTC to CTT at codon 472 that did not alter an amino acid; (2) a substitution 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 acceptor 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 to 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, suggesting that this was a rare, non-deleterious alteration.
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Received: March 9, 1998 / Accepted: April 30, 1998
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Tsujikawa, M., Shimomura, Y., Okada, M. et al. Novel polymorphisms in the βig-h3 gene. J Hum Genet 43, 214–215 (1998). https://doi.org/10.1007/s100380050075
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DOI: https://doi.org/10.1007/s100380050075
