IR@PKUHSC  > 北京大学第三临床医学院  > 眼科
学科主题临床医学
Compound heterozygous mutations of M1S1 gene in gelatinous droplike corneal dystrophy
Tian, X; Fujiki, K; Li, Q; Murakami, A; Xie, PY; Kanai, A; Wang, W; Liu, ZG
刊名AMERICAN JOURNAL OF OPHTHALMOLOGY
2004-03-01
137期:3页:567-569
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 report the genetic findings in a Chinese patient diagnosed with gelatinous droplike corneal dystrophy (GDLD).

DESIGN: Case report and experimental study.

METHODS: Molecular genetic analysis was performed on the DNA extracted from peripheral leukocytes from a Chinese patient with GDLD and his unaffected parents. Fifty healthy, unrelated, Chinese participants were used as control subjects. The M1S1 gene was amplified by polymerase chain reaction and directly sequenced.

RESULTS: The patient was clinically diagnosed with GDLD. Direct sequencing of the M1S1 gene revealed heterozygous changes in both alleles, a novel Y184C mutation on one allele and a Q118X mutation on the other that was reported as a founder mutation in the Japanese population. The patient′s unaffected parents showed only the heterozygous Q118X or Y184C mutation. The mutation was not detected in the 50 unaffected subjects.

CONCLUSIONS: This is the first genetic analysis of a Chinese patient with GDLD. Because the compound heterozygote mutations Q118X and Y184C cosegregated with the phenotype, they are likely the cause of GDLD in this patient. (C) 2004 by Elsevier Inc. All rights reserved.

语种英语
WOS记录号WOS:000220325500030
引用统计
被引频次:16[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/400002259/61891
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.Sun Yat Sen Univ, Zhongshan Ophthalm Ctr, Ocular Surface Ctr, Guangzhou 510060, Peoples R China
3.Peking Univ, Hosp 3, Dept Ophthalmol, Beijing 100871, Peoples R China
4.Peking Univ, Optometry & Ophthalmol Ctr, Beijing, Peoples R China
5.Jilin Univ, China Japan Union Hosp, Dept Ophthalmol, Jilin, Peoples R China
推荐引用方式
GB/T 7714
Tian, X,Fujiki, K,Li, Q,et al. Compound heterozygous mutations of M1S1 gene in gelatinous droplike corneal dystrophy[J]. AMERICAN JOURNAL OF OPHTHALMOLOGY,2004,137(3):567-569.
APA Tian, X.,Fujiki, K.,Li, Q.,Murakami, A.,Xie, PY.,...&Liu, ZG.(2004).Compound heterozygous mutations of M1S1 gene in gelatinous droplike corneal dystrophy.AMERICAN JOURNAL OF OPHTHALMOLOGY,137(3),567-569.
MLA Tian, X,et al."Compound heterozygous mutations of M1S1 gene in gelatinous droplike corneal dystrophy".AMERICAN JOURNAL OF OPHTHALMOLOGY 137.3(2004):567-569.
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, X]的文章
[Fujiki, K]的文章
[Li, Q]的文章
百度学术
百度学术中相似的文章
[Tian, X]的文章
[Fujiki, K]的文章
[Li, Q]的文章
必应学术
必应学术中相似的文章
[Tian, X]的文章
[Fujiki, K]的文章
[Li, Q]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。