An analysis of BIGH3 mutations in patients with corneal dystrophies in the Kyushu district of Japan

Shigeo Yoshida, Yuji Kumano, Ayako Yoshida, Toshio Hisatomi, Hiroyasu Matsui, Teruo Nishida, Tatsuro Ishibashi, Takao Matsui

研究成果: Contribution to journalArticle査読

14 被引用数 (Scopus)

抄録

Purpose: To assess the involvement of BIGH3 in corneal dystrophies (CD) with an autosomal dominant trait, in patients referred to a hospital in the Kyushu district of Japan. Methods: Forty-five CD patients from 44 families were studied. Genomic DNA was extracted from peripheral blood, and exons 4 and 12 of the BIGH3 gene were amplified by polymerase chain reaction followed by direct sequencing. Results: In exon 4, an R124H mutation associated with Avellino corneal dystrophy (ACD) was found in 39/44 families (86.4%) and an R124C mutation associated with lattice corneal dystrophy type 1 (LCD1) was detected in 2/44 families (4.5%). In exon 12, an R555W mutation associated with granular corneal dystrophy (GCD) was detected in 4/44 families (9.1%). Conclusions: Codons R124 and R555 of the BIGH3 gene represent mutational hotspots in the genomes of Japanese patients with autosomal-dominant CD.

本文言語英語
ページ(範囲)469-471
ページ数3
ジャーナルJapanese Journal of Ophthalmology
46
4
DOI
出版ステータス出版済み - 7 2002

All Science Journal Classification (ASJC) codes

  • Ophthalmology

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