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国家自然科学基金(81170851)

作品数:4 被引量:10H指数:2
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一个中国Avellino型角膜营养不良家系的分子遗传学分析被引量:2
2014年
背景研究发现,转化生长因子B诱导(TGFflI)基因是角膜营养不良最常见的致病基因,但rG印,基因突变与患者表型的关系研究目前仍然很少。目的探讨一个中国汉族Avellino角膜营养不良(ACD)家系的临床特征及致病原因,分析TGFfll基因突变与患者表型的关系。方法收集一个中国汉族ACD家系共3代19名家系成员,对现存活的5例患者和13名表型正常成员进行研究,采用裂隙灯显微镜、眼前节OCT、激光扫描共焦显微镜等检查方法观察受检者角膜病变的临床特点。收集所有受检者外周静脉血各2ml,对rG邛,基因进行突变分析和DNA测序。结果先证者诊断为ACD,该家系共6例患者,已去世1例,3代家系中每代均有患病者,男女患病概率相等,遗传模式符合常染色体显性遗传。该家系中3例女性患者角膜混浊病灶的形态呈面包屑样、条索样和点片状,而2例男性患者角膜混浊呈点状;女性患者角膜病变范围大于男性患者;家系中女性患者的视力为0.4~0.9,男性患者视力均为1.0。女性患者和男性患者激光扫描共焦显微镜下和眼前节OCT检查结果均无明显差别。所有患者rG邛,基因中发现第4外显子的C.372G〉A(P.R124H)杂合突变(碱基G〉A),导致第124位的精氨酸变成组氨酸,并发现TGFflI基因8号和12号外显子两个位点存在同义单核苷酸多态性(SNP)(C.981G〉A,V327V和e.1626T〉C,F542F),而家系中表型正常成员未发现此类改变。结论阳邛,基因的R124H突变为该ACD家系的致病突变,该家系中女性患者表型重于男性患者,未发现其与DNA测序结果相关。
樊宁刘璐王芝计虹杨洁黎明蒋丽琼刘旭阳
关键词:转化生长因子BDNA突变分析家系
Experimental Tibetan monkey domestication and its application for intraocular pressure measurement
AIM:To train Tibetan monkey(Macaca thibetana)for intraocular pressure(IOP)measurement in conscious state and o...
Yong YiXu-Yang LiuTao ZengLiang ZhouSu-Ping CaiYan YinYun WangXu CaoYue-Zhong XuHong-Xing Wang
关键词:MACACADOMESTICATIONCONSCIOUSINTRAOCULAR
Experimental Tibetan monkey domestication and its application for intraocular pressure measurement被引量:2
2012年
AIM: To train Tibetan monkey (Macaca thibetana) for intraocular pressure (IOP) measurement in conscious state and obtain normal IOP in conscious Tibetan Macaque. METHODS: The training was based on award-conditioned behavior. Food stimulation and human-animal interaction were used in this training. RESULTS: Trained Tibetan monkeys calmly accepted IOP measurement by the TonoVete (R) rebound tonometer without sedation or anesthesia and their IOP values were similar to other primates. CONCLUSION: Human-cultivated Thibetan monkeys are tamable, and can be used for biomedical research such as ophthalmic research without anesthesia.
Yong Yi,Xu-Yang Liu
关键词:DOMESTICATION
Single nucleotide polymorphism of MYOC affected the severity of primary open angle glaucoma被引量:2
2013年
AIM: To detect the mutations in two candidate genes, myocilin (MYOC ) and cytochrome P450 1B1 (CYP1B1 ), in a Chinese family with primary open angle glaucoma (POAG). ·METHODS:Thefamilywascomposedofthreemembers, the parents and a daughter. All members of the family underwent complete ophthalmologic examinations. Exons of MYOC and CYP1B1 genes were screened for sequence alterations by polymerase chain reaction (PCR) and direct DNA sequencing. ·RESULTS: The mother was the proband, she was diagnosed as POAG in both eyes. Her daughter was diagnosed as juvenile -onset POAG. The father was asymptomatic. One MYOC heterozygous mutation c.1150 G >A (D384N) in exon 3 was identified in the mother, another MYOC heterozygous variation c.1058 C>T (T353I) in exon 3 was identified in the father, and the daughter inherited both of the variations. Meanwhile, three single nucleotide polymorphisms (SNPs) in CYP1B1 gene were found in the family. ·CONCLUSION: The D384N mutation of MYOC has been reported as one of disease-causing mutations in POAG, whereas T353I variation of MYOC was thought as a high risk factor for POAG. The two variations of MYOC were first reported in one juvenile -onset POAG patient whopresented with more severe clinical manifestations, suggesting that T353I polymorphism of MYOC may be associated with the severity of POAG.
Xiao-Min ZhouYan YinNing FanHong-Bo ChengXiao-Hong LiYun WangWen-Han YuSu-Ping CaiXu-Yang Liu
关键词:MYOCILINMUTATION
从分子水平认识角膜营养不良的分类方法被引量:6
2013年
角膜营养不良具有遗传性,表现为双眼角膜组织各层出现进行性的病理性沉着物,导致角膜混浊,视力下降甚至失明。以往的角膜营养不良分类方法是以受累角膜的分层为依据的,存在一定的不足。随着分子遗传学研究的进展,一些研究者提出以遗传学信息为依据对角膜营养不良进行分类,如国际角膜营养不良分类委员会(IC3D)提出了在临床、组织病理学特征分类基础上结合遗传学依据对角膜营养不良进行较为科学、合理的新分类方法。这种分类方法把疾病的临床、病理和遗传方面当作一个整体进行考虑。近几年来,本实验室通过对中国多个角膜营养不良家系的遗传学研究,主要对角膜营养不良的相关基因人转化生长因子-β诱导(TGFBI)基因进行分析,揭示了TGFBI基因不同的突变与临床表型之间的联系,从分子水平证实TGFBl基因角膜营养不良分类方法是科学、准确的。就角膜营养不良的临床和分子方面的研究进展进行总结,为各类角膜影响不良的鉴别诊断和治疗提供依据。
蔡素萍刘旭阳(审校闫乃红
关键词:角膜营养不良
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