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Mutation Analysis of CHST6 Gene in Chinese Patients With Macular Corneal Dystrophy
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
2010-08-01
DOI10.1097/ICO.0b013e3181ca2e74
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
资助者Japanese Ministry of Education, Tokyo, Japan ; Japanese Ministry of Education, Tokyo, Japan
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
资助者Japanese Ministry of Education, Tokyo, Japan ; Japanese Ministry of Education, Tokyo, Japan
WOS记录号WOS:000280254500009
引用统计
被引频次:2[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/400002259/66945
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, 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
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GB/T 7714
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.
APA Liu, Zuguo.,Tian, Xin.,Iida, Nobuko.,Fujiki, Keiko.,Xie, Peiying.,...&Murakami, Akira.(2010).Mutation Analysis of CHST6 Gene in Chinese Patients With Macular Corneal Dystrophy.CORNEA,29(8),883-888.
MLA Liu, Zuguo,et al."Mutation Analysis of CHST6 Gene in Chinese Patients With Macular Corneal Dystrophy".CORNEA 29.8(2010):883-888.
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