TY - JOUR
T1 - Novel polymorphisms in the βig-h3 gene
AU - Tsujikawa, Motokazu
AU - Shimomura, Yoshikazu
AU - Okada, Masaki
AU - Yamainoto, Syuji
AU - Tano, Yasuo
AU - Kurahashi, Hiroki
N1 - Copyright:
Copyright 2018 Elsevier B.V., All rights reserved.
PY - 1998
Y1 - 1998
N2 - 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.
AB - 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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U2 - 10.1007/s100380050075
DO - 10.1007/s100380050075
M3 - Article
C2 - 9747041
AN - SCOPUS:0031609610
SN - 1434-5161
VL - 43
SP - 214
EP - 215
JO - Journal of Human Genetics
JF - Journal of Human Genetics
IS - 3
ER -