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Uncovering the profile of mutations of transforming growth factor beta-induced gene in Chinese corneal dystrophy patients

ISSN号：2222-3959
期刊名称：《国际眼科杂志：英文版》
时间：0
分类：R77[医药卫生—眼科;医药卫生—临床医学]
作者机构：[1]State Key Laboratory Cultivation Base, Shandong ProvincialKey Laboratory of Ophthalmology, Shandong Eye Institute,Shandong Academy of Medical Sciences, Qingdao 266071,Shandong Province, China, [2]Shandong Eye Hospital, Shandong Eye Institute, ShandongAcademy of Medical Sciences, Jinan 250021, ShandongProvince, China
相关基金：Supported by the National Natural Science Foundation of China (No.81370990);the Young and MiddleAged Scientists Research Awards Fund of Shandong Province, China (No. BS2013YY013, No. BS2015YY014);the Science and Technology Foundation of Shinan District, Qingdao, Shandong Province, China (No. 2013-13-014-YY)

作者： Xiao-Dan Hao[1], Yang-Yang Zhang[1], Peng Chen[1], Su-Xia Li[2], Ye wang[1]

关键词：转变生长因素贝它导致, 角膜的营养障碍, 变化, 汉语, transforming growth factor beta-induce, corneal dystrophy, mutations, Chinese

中文摘要：

AIMTo 揭开转变生长因素的变化侧面导致贝它( TGFBI )在中国角膜的营养障碍病人并且进一步的基因调查遗传型显型 correlations.METHODSForty 的特征--二个题目(包括 15 个病人和 8 个未受影响的成员的 6 个无关的家庭，并且 19 个分散的病人)汉语，起源受到 phenotypic 和 genotypic 描述。病人的角膜的显型被裂缝灯摄影记录。变化屏蔽 TGFBI 的编码区域被检测的直接 sequencing.RESULTSWe 执行四种角膜的营养障碍类型。最经常的显型是小粒的角膜的营养障碍(GCD )( 包括 3 个家庭和 8 个分散的病人) 并且格子角膜的营养障碍(液晶显示器)( 包括 2 个家庭和 9 个分散的病人) 。下一显型是鲍曼层(CDB )(1 个家庭和 1 个分散的病人) 的角膜的营养障碍和上皮的地下室膜营养障碍(EBMD )(1 个分散的病人) 。为 TGFBI 角膜的营养障碍负责的六个不同变化与角膜的营养障碍在 30 个个人被识别。那些是，在 1 个家庭的 p.R124H 变化和有 GCD ，在 2 个家庭的 p.R555W 变化和有 GCD ，在 2 个家庭的 p.R124C 变化和有液晶显示器的 7 个分散的病人的 3 个分散的病人的 2 个分散的病人，在有液晶显示器的 1 个分散的病人的 p.A620D 变化，在有液晶显示器的 1 个分散的病人的 p.H626R 变化，和在有 CDB 的 1 个家庭和 1 个分散的病人的 p.R555Q 。没有变化在留下被检测 3 个不正常的 GCD 病人和 1 EBMD patient.CONCLUSIONGCD 和液晶显示器是用汉语的最经常的显型人口。R555W 是为 GCD 的最普通的变化；R124C 是为液晶显示器的最普通的变化。我们的调查结果扩大 mutational 光谱 TFGBI，和这是在中国人口与各种各样的角膜的营养障碍联系的广泛地描出的 TGFBI 变化侧面。

英文摘要：

AIM： To uncover the mutations profile of transforming growth factor beta-induced （TGFBI） gene in Chinese corneal dystrophy patients and further investigate the characteristics of genotype-phenotype correlations. METHODS： Forty-two subjects （6 unrelated families including 15 patients and 8 unaffected members, and 19 sporadic patients） of Chinese origin were subjected to phenotypic and genotypic characterization. The corneal phenotypes of patients were documented by slit lamp photography. Mutation screening of the coding regions of TGFBI was performed by direct sequencing. RESULTS： We detected four corneal dystrophy types. The most frequent phenotypes were granular corneal dystrophy （GCD）（including 3 families and 8 sporadic patients） and lattice corneal dystrophy （LCD）（including 2 families and 9 sporadic patients）. The next phenotypes were corneal dystrophy of Bowman layer （CDB）（1 family and 1 sporadic patient） and epithelial basement membrane dystrophy （EBMD）（1 sporadic patient）. Six distinct mutations responsible for TGFBI corneal dystrophies were identified in 30 individuals with corneal dystrophies. Those were, p.R124H mutation in 1 family and 2 sporadic patients with GCD, p.R555W mutation in 2 families and 3 sporadic patients with GCD, p.R124C mutation in 2 families and 7 sporadic patients with LCD, p.A620D mutation in 1 sporadic patient with LCD, p.H626R mutation in 1 sporadic patient with LCD, and p.R555Q in 1 family and 1 sporadic patient with CDB. No mutation was detected in the remaining 3 atypical GCD patients and 1 EBMD patient, CONCLUSION： GCD and LCD are the most frequent phenotypes in Chinese population. R555W was the most common mutation for GCD; R124C was the most common mutation for LCD, Our findings extend the mutational spectrum of TFGBI , and this is the extensively delineated TGFBI mutation profile associated with the various corneal dystrophies in the Chinese population.

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