IR@PKUHSC  > 北京大学第三临床医学院  > 眼科
学科主题临床医学
A novel variant lattice corneal dystrophy caused by association of mutation (V625D) in TGFBI gene
Tian, Xin; Fujiki, Keiko; Zhang, Yan; Murakami, Akira; Li, Qin; Kanai, Atsushi; Wang, Wei; Hao, Yansheng; Ma, Zhizhong
刊名AMERICAN JOURNAL OF OPHTHALMOLOGY
2007-09-01
144期:3页:473-475
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Ophthalmology
研究领域[WOS]Ophthalmology
英文摘要

PURPOSE: To characterize the molecular defect in the TGFBI gene in a Chinese family affected with an atypical lattice corneal dystrophy.

DESIGN: Case report and experimental study.

METHODS: Molecular genetic analysis was performed on the DNA extracted from peripheral leucocytes from a Chinese family with atypical lattice corneal dystrophy. Fifty normal unrelated subjects of Chinese origin were used as controls. All exons of the TGFBI gene were amplified by polymerase chain reaction and directly sequenced.

RESULTS: Bilateral, symmetrical, ridgy round pattern of opacities with uneven surfaces and thin lattice lines were noted in the proband. Analysis of exon 14 revealed a heterozygous T to A transition on codon 625. The mutation was not detected in the unaffected family member and 50 unaffected individuals.

CONCLUSIONS: The novel TGFBI gene mutation (V625D) is associated with an early,onset variant of lattice corneal dystrophy. This case highlights the utility of molecular genetic analysis in differentiating corneal dystrophies associated with an atypical phenotype from nondystrophic conditions.

语种英语
WOS记录号WOS:000249411900034
引用统计
被引频次:15[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/54742
专题北京大学第三临床医学院_眼科
作者单位1.Juntendo Univ, Sch Med, Dept Ophthalmol, Tokyo 113, Japan
2.Jilin Univ, Hosp 2, Dept Ophthalmol, Jilin, Peoples R China
3.Peking Univ, Hosp 3, Dept Ophthalmol, Beijing 100871, Peoples R China
4.Jilin Univ, China Japan Union Hosp, Dept Ophthalmol, Jilin, Peoples R China
推荐引用方式
GB/T 7714
Tian, Xin,Fujiki, Keiko,Zhang, Yan,et al. A novel variant lattice corneal dystrophy caused by association of mutation (V625D) in TGFBI gene[J]. AMERICAN JOURNAL OF OPHTHALMOLOGY,2007,144(3):473-475.
APA Tian, Xin.,Fujiki, Keiko.,Zhang, Yan.,Murakami, Akira.,Li, Qin.,...&Ma, Zhizhong.(2007).A novel variant lattice corneal dystrophy caused by association of mutation (V625D) in TGFBI gene.AMERICAN JOURNAL OF OPHTHALMOLOGY,144(3),473-475.
MLA Tian, Xin,et al."A novel variant lattice corneal dystrophy caused by association of mutation (V625D) in TGFBI gene".AMERICAN JOURNAL OF OPHTHALMOLOGY 144.3(2007):473-475.
条目包含的文件
条目无相关文件。
个性服务
推荐该条目
保存到收藏夹
查看访问统计
导出为Endnote文件
谷歌学术
谷歌学术中相似的文章
[Tian, Xin]的文章
[Fujiki, Keiko]的文章
[Zhang, Yan]的文章
百度学术
百度学术中相似的文章
[Tian, Xin]的文章
[Fujiki, Keiko]的文章
[Zhang, Yan]的文章
必应学术
必应学术中相似的文章
[Tian, Xin]的文章
[Fujiki, Keiko]的文章
[Zhang, Yan]的文章
相关权益政策
暂无数据
收藏/分享
所有评论 (0)
暂无评论
 

除非特别说明,本系统中所有内容都受版权保护,并保留所有权利。