北京大学医学部机构知识库
Advanced  
IR@PKUHSC  > 北京大学第三临床医学院  > 眼科  > 期刊论文
学科主题: 临床医学
题名:
Mutation Analysis of CHST6 Gene in Chinese Patients With Macular Corneal Dystrophy
作者: Liu, Zuguo2; Tian, Xin3; Iida, Nobuko; Fujiki, Keiko; Xie, Peiying4; Wang, Wei3; Ma, Zhizhong3; Kanai, Atsushi; Murakami, Akira1
关键词: macular corneal dystrophy ; carbohydrate sulfotransferase 6 (CHST6) gene ; Chinese ; mutation ; allelic heterogeneity
刊名: CORNEA
发表日期: 2010-08-01
DOI: 10.1097/ICO.0b013e3181ca2e74
卷: 29, 期:8, 页:883-888
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
关键词[WOS]: CARBOHYDRATE SULFOTRANSFERASE GENE ; KERATAN SULFATE ; GLCNAC 6-O-SULFOTRANSFERASE ; DISTINCT MUTATIONS ; HETEROGENEITY ; INDIA
英文摘要:

Purpose: To examine the carbohydrate sulfotransferase 6 (CHST6) gene in Chinese patients with macular corneal dystrophy (MCD).

Methods: Nineteen unrelated Chinese families with MCD, including 24 patients and 3 unaffected relatives, were examined. Genomic DNA was extracted from peripheral blood leukocytes. The coding region of the CHST6 gene was amplified by the polymerase chain reaction, and the DNA fragments were directly sequenced. Fifty unrelated normal Chinese volunteers served as the controls.

Results: Eighteen different mutations in the CHST6 gene (including 15 novel mutations) were identified, of which 12 were missense mutations, 5 were nonsense mutations, and 1 was a frameshift mutation. Six families had homozygous mutation, and 13 families had compound heterozygous mutation. None of these mutations were detected in the normal controls.

Conclusions: CHST6 mutations may be responsible for the pathogenesis of MCD in Chinese patients. The Q298X mutation detected in 5 of 19 families (6 of 38 alleles, 15.8%) may be the founder mutation in Chinese patients. However, our findings also indicate a high level of allelic heterogeneity of the CHST6 gene in Chinese patients and in other ethnic groups.

语种: 英语
所属项目编号: 07457417 ; 16591768
项目资助者: Japanese Ministry of Education, Tokyo, Japan
WOS记录号: WOS:000280254500009
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/66945
Appears in Collections:北京大学第三临床医学院_眼科_期刊论文

Files in This Item:

There are no files associated with this item.


作者单位: 1.Juntendo Univ, Sch Med, Dept Ophthalmol, Bunkyo Ku, Tokyo 1138421, Japan
2.Peking Univ, Dept Ophthalmol, Hosp 3, Beijing 100871, Peoples R China
3.Peking Univ, Optometry & Ophthalmol Ctr, Beijing 100871, Peoples R China
4.Xiamen Univ, Coll Med, Inst Eye, Xiamen, Fujian, Peoples R China

Recommended Citation:
Liu, Zuguo,Tian, Xin,Iida, Nobuko,et al. Mutation Analysis of CHST6 Gene in Chinese Patients With Macular Corneal Dystrophy[J]. CORNEA,2010,29(8):883-888.
Service
Recommend this item
Sava as my favorate item
Show this item's statistics
Export Endnote File
Google Scholar
Similar articles in Google Scholar
[Liu, Zuguo]'s Articles
[Tian, Xin]'s Articles
[Iida, Nobuko]'s Articles
CSDL cross search
Similar articles in CSDL Cross Search
[Liu, Zuguo]‘s Articles
[Tian, Xin]‘s Articles
[Iida, Nobuko]‘s Articles
Related Copyright Policies
Null
Social Bookmarking
Add to CiteULike Add to Connotea Add to Del.icio.us Add to Digg Add to Reddit

Items in IR are protected by copyright, with all rights reserved, unless otherwise indicated.

 

 

Valid XHTML 1.0!
Copyright © 2007-2017  北京大学医学部 - Feedback
Powered by CSpace