检索结果-南通市图书馆

Rare variants in novel and known genes associated with primary angle closure glaucoma based on whole exome sequencing of 549 probands

在线全文

学校读者我要写书评

暂无评论

Journal of Genetics and Genomics 2019年第7期46卷 353-357页

作者： Wenmin Sun Xueshan Xiao Shiqiang Li Jiamin Ouyang Xueqing Li Xiaoyun Jia Xing Liu qingjiong zhang State Key Laboratory of Ophthalmology Zhongshan OphthalmicCenter Sun Yat-sen University

Primary angle closure glaucoma(PACG)is one of the most common causes of irreversible blindness in Asia and about 80%of PACG are present in Asia(Song et al.,2017).Genetics plays an important role in the development of PACG(Gramer et al.,2014).Recently,eight common SNPs were found to be strongly associated with PACG(Vithana et al.,2012;Khor et al.,2016)and mutations in MYRF cause high hyperopia accompanied with PACG(Xiao et al.,2019).

关键词： irreversible blindness hyperopia

Virus DNA Detection of Herpes Simplex Keratitis by PCR

在线全文

学校读者我要写书评

暂无评论

眼科学报 1993年第3期9卷 126-128页

作者： Kaili Wu qingjiong zhang Limei Zhuo Huosheng Chen Xiaohong zhang Jianhua Yang Youzhao Chen Zhongshan Ophthalmic Center Sun Yat-Sen University of Medical Sciences and National Ophthalmological LaboratoriesMinistry of Public HealthChina Guangzhou 510060China Department of Microbiology Sun Yat-Sen University of Medical Sciences Guangzhou 510089China Worker's Hospital of Guangzhou Petrochemical Plants Guangzhou 501726China

HSV-DNA of seven corneal lesions suspected with herpessimplex keratitis (HSK) and nine normal human donor corneas weredetected by PCR,Five out of seven diseased corneas showed positiveresults,and the other two diseased corneas and *** *** results suggest the PCR may be useful as a rapid andsensitive method for diagnosing *** Science 1993;9:126-128.

关键词： HSV PCR herpes simplex keratitis

Genetic study on early onset high myopia: A story from WES on 298 probands

在线全文

学校读者我要写书评

暂无评论

Genetic study on early onset high myopia: A story from WES o...

Clinical Analysis of Leber's Hereditary Optic Neuropathy Harboring mtDNA Mutation at nt11778

中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会

作者： zhang qingjiong State Key Laboratory of Ophthalmology Zhongshan Ophthalmic Center Sun Yat-sen University

Objective High myopia are the most common causes of irreversible blindness due to its associat ed complications. Genetic factors have been shown to play an important role in the development of high myopia. Both Mendelian and complex traits have been suggested but many genetic studie s on high myopia did not differentiate Mendelian trait from complex trait. Based on our series stud ies on high myopia in the last two decades, most early onset high myopia should be considered t o be transmitted as Mendelian trait while most high myopia in teenage students associated with e xcessive near work are more likely to be complex trait. This study aims to elucidate the genetic ba sis of Mendelian high myopia based on analysis of early onset high myopia. Method Whole exome analysis was conducted on genomic DNA from 298 probands with early on set high myopia. Variations in genes known to associated with high myopia or with other forms of retinal diseases were analyzed. Comparative variation analysis was performed in order to search for novel mutations in genes not associated with any know diseases. Result Mutations in genes suggested to be associated with high myopia were only detected in a f ew families. Comprehensive analysis of genes know to be responsible for other retinal diseases i dentified potential pathogenic mutations in 34 of 234 genes in 71 of 298(23.4%) probands. Comp arative analysis between whole exome sequencing data from the 298 probands and those from s everal cohorts with other diseases not only revealed several novel candidate genes for Mendelianhigh myopia but also suggested a few unlikely causative genes reported to be responsible for hig h myopia and other retinal diseases. Conclusion Our findings provide evidence to support that early onset high myopia is likely trans mitted as Mendelian trait. About one fourth of such high myopia might be the most significant or e arliest sign of other hereditary ocular or systemic diseases. Functional studies or generati

关键词：

来源： cnki会议评论

在线全文

cnki会议

学校读者我要写书评

暂无评论

Eye Science 2001年第1期17卷 31-34页

作者： Xinyu zhang , Qiang Yu , qingjiong zhang , Changxian YiZhongshan Ophthalmic Center , Sun yat-sen university of medical science , Guangzhou 510060, China Zhongshan Ophthalmic Center Sun Yat-sen University of Medical Science Guangzhou 510060 China

Purpose: To improve our diagnostic technique through the analysis of clinical features ofLeber's heredita'y optic neuropathy (LHON) harboring mtDNA point mutation at nt11778.Methods: Detection of nt11778 mutation was performed on 38 patients clinically diagnosed as LHON in our ophthalmic center from year 1998 to 2000. Circumstances of onset and family history were obtained and ophthalmoscopy, fundus fluorescein angiography, visual field and visual evoked potential were performed on all 38 patients. Result: 30 In 38 patients (78.95 % ) harbor nt11778 mutation, including 28 male (93.33%) and 2 female (6.67%). The ratio of affected male to female is 14: 1. Patients harboring nt11778 mutation display typical clinical nanifestations.Ccnclusion: Identification of one of the three LHON specifically associated ntDNA mutations is essential to confirm the diagnosis. Eye Science 2001: 17:31 ～ 34.

关键词：遗传性视神经疾病基因突变 nt11778 LHON 诊断

基于高通量测序分析鉴别视网膜病变中的神经纤维瘤病

在线全文

学校读者我要写书评

暂无评论

眼科学报 2024年第8期39卷 381-394页

作者：欧阳嘉敏高阳易珍蒋奕黎仕强肖学珊贾小云张清炯孙文敏中山大学中山眼科中心眼病防治全国重点实验室广东省眼科视觉科学重点实验室广州510060

目的:通过高通量测序分析进行基因诊断,鉴别视网膜病变中的神经纤维瘤病,为其早诊早治提供重要依据。方法:回顾性分析眼遗传病高通量测序数据库中的NF1和NF2基因变异,根据ACMG/AMP指南解析变异致病性;进一步结合患者的临床表型、家族史... 详细信息

目的:通过高通量测序分析进行基因诊断,鉴别视网膜病变中的神经纤维瘤病,为其早诊早治提供重要依据。方法:回顾性分析眼遗传病高通量测序数据库中的NF1和NF2基因变异,根据ACMG/AMP指南解析变异致病性;进一步结合患者的临床表型、家族史以及其他检查结果,综合判断明确是否患有神经纤维瘤病,同时进行疾病的进展和随访的研究分析。结果:通过分析不同眼部表型家系的高通量测序结果,共在11例先证者中发现NF1和NF2基因的10个可能致病变异,包括7个NF1变异和3个NF2变异。这11例先证者的初始诊断包括家族性渗出性玻璃体视网膜病变、黄斑/视网膜发育不良、斜视、视网膜色素变性、Coats病和牵牛花综合征等。其中,在1例初诊为家族性渗出性玻璃体视网膜病变的患儿中,检测到3个基因的致病变异,即NF2:c.122G>A/p.(W41*)、RS1:c.520C>T/p.(R174W)和NYX:c.1027C>T/p.(R343C)。随访检查发现,该患儿的复杂眼部表型符合NF2、RS1和NYX致病变异的临床改变,且MRI检查发现双侧前庭神经鞘瘤、脊髓室管膜瘤和多发性神经鞘瘤改变。除该患者外,还有4例患者在随访中发现存在牛奶咖啡斑或雀斑样色素沉着等皮肤改变,1例合并小脑神经纤维瘤浸润。结论:高通量测序分析能有效检测出神经纤维瘤病相关基因的变异,有助于筛选非典型表现的神经纤维瘤病,为疾病的早期诊断,尤其是对严重中枢神经系统病变的早期筛查和及时干预,提供了重要依据。

关键词：神经纤维瘤病 NF1 NF2 高通量测序视网膜病变

细胞因子Ⅱ在遗传性视网膜色素变性的转基因小鼠视网膜的表达研究

在线全文

学校读者我要写书评

暂无评论

眼科研究 2001年第3期19卷 229-231页

作者：陈颖 zhang qingjiong 张清炯谭智群中山医科大学中山眼科中心广州 Lab.of Ocular Genetic and Molecular Biology Zhongshan Ophthalmic CenterSun Yat-san University of Medical SciencesGuangzhou 510060 美国南加州大学神经科

目的探讨细胞因子Ⅱ（ｃａｌｐａｉｎ Ⅱ）在视网膜色素变性过程中表达的变化，以此窥视遗传性视网膜色素变性的转基因小鼠（ｒｄｓ小鼠）发病的某些可能因素。方法以Ｃ３Ｂ小鼠为对照，选择不同生长时期的ｒｄｓ小鼠的视网膜组织... 详细信息

目的探讨细胞因子Ⅱ（ｃａｌｐａｉｎ Ⅱ）在视网膜色素变性过程中表达的变化，以此窥视遗传性视网膜色素变性的转基因小鼠（ｒｄｓ小鼠）发病的某些可能因素。方法以Ｃ３Ｂ小鼠为对照，选择不同生长时期的ｒｄｓ小鼠的视网膜组织，用免疫组化方法检测Ｃａｌｐａｉｎ Ⅱ在不同生长阶段的小鼠模型视网膜中的是否表达及表达情况。结果１周即可见Ｃａｌｐａｉｎ Ⅱ在ｒｄｓ小鼠视网膜神经节细胞层的表达，２周左右内核层也见表达，４周后外核层也开始出现由强至弱的ｃａｌｐａｉｎ Ⅱ强阳性表达，最终至全部视网膜剩余组织中均可见ｃａｌｐａｉｎ Ⅱ的表达。结论只有高钙才能激活ｃａｌｐａｉｎ Ⅱ的表达，研究中ｃａｌｐａｉｎ Ⅱ参与了ｒｄｓ小鼠视网膜细胞的变性死亡。因此，高钙是ｒｄｓ小鼠视网膜变性的一个可能因素。

关键词：视网膜色素变性细胞因子Ⅱ rds小鼠

Color Vision Defects with Variation in the Exon 5 of Red and Green Pigment Genes

在线全文

学校读者我要写书评

暂无评论

眼科学报 1998年第3期14卷 130-133页

作者： Huangxuan Shen, qingjiong zhang, Xueshan Xiao, Shiqiang Li, Li Guo, Futian JiangZhongshan Ophthalmic Center, Sun Yat-sen University of Medical Sciences , Guangzhou 510060, China Zhongshan Ophthalmic Center Sun Yat-sen University of Medical Sciences Guangzhou 510060 China

Purpose : To investigate correlation of variation in the exon 5 of red and green pigment genes with color vision *** : Exon 5 of the red and green pigment genes in 11 protans, 19 deutans and 38 normal controls were analyzed by heteroduplux-SSCP *** : In all 11 protans and 8 of the 19 deutans, defects of the red or green pigment gene could be identified. The C polymorphism (A/C at codon 283) in green pigment gene was present in 8 of 44 trichromats and 5 of 24 dichromats. Specific electrophoretic bands were found in 2 normal controls and a ***: Variation in the exon 5 of the red and green pigment genes is the most common cause for color vision defects. Heteroduplex-SSCP analysis is a suitable way in screening specific variation in visual pigment genes. Eye Science 1998; 14 : 130 - 133.

关键词：色觉缺陷视色素基因 SSCP 遗传多态性红色素绿色素

A novel locus for autosomal dominant high hyperopia mapped to chromosomal 11

在线全文

学校读者我要写书评

暂无评论

A novel locus for autosomal dominant high hyperopia mapped t...

Mutations in lens-specific genes: cataract and beyond

中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会

作者： Xiao Xueshan Li Shiqiang Jia Xiaoyun Guo Xiangming zhang qingjiong State Key Laboratory of Ophthalmology Zhongshan Ophthalmic Center Sun Yat-sen University

Objective High hyperopia is a common and severe refractive error associated with blurred vision, asthenopia, amblyopia and strabismus. This study is to map the genetic locus of autosomal domi nant high hyperopia in a large Chinese family Method An autosomal dominant high hyperopia was identified in five generation family with 16 aff ected patients. A genome wide linkage scan on 20 family members(14 affected) was performed by genotyping microsatellite markers at about 10 c M intervals, together with two-point linkage ana lysis. In the meantime, analysis of shared novel alleles on data from whole exome sequencing wa s used to confirm the linkage region and to search for potential candidate variants. Result High hyperopia in this family shows linkage to markers in 27.1 c M region on chromosome 11. All ten markers in the linkage interval gave positive lod scores, with maximum two-point lod scores of 4.68 at theta=0. Analysis of shared alleles identified only one region with multiple novel va riants, which also located in the linkage interval. Conclusion A novel locus for autosomal dominant high hyperopia is mapped to chromosomal 11. Analysis of additional families and functional study on candidate variants may lead to identificatio n of the gene responsible for autosomal dominant high hyperopia.

关键词：

来源： cnki会议评论

在线全文

cnki会议

学校读者我要写书评

暂无评论

Mutations in lens-specific genes: cataract and beyond