Novel polymorphisms in the βig-h3 gene

Motokazu Tsujikawa, Yoshikazu Shimomura, Masaki Okada, Syuji Yamainoto, Yasuo Tano, Hiroki Kurahashi

Research output: Contribution to journalArticlepeer-review

4 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)214-215
Number of pages2
JournalJournal of Human Genetics
Issue number3
Publication statusPublished - 1998
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)


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