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find Keyword "遗传" 276 results
  • 糖尿病视网膜病变候选基因研究

    糖尿病视网膜病变是一种与血糖水平、病程长短以及遗传与环境因素相互作用所致的复杂疾病,其相关或易感基因研究在近年来非常活跃。利用基因学方法,采用多聚酶链反应等技术,迄今已筛选出了数十种糖尿病视网膜病变的可能相关基因。本文选择介绍了与糖尿病视网膜病变密切相关的几个候选基因的研究进展。 (中华眼底病杂志, 2006, 22: 144-146)

    Release date:2016-09-02 05:51 Export PDF Favorites Scan
  • Leber遗传性视神经病线粒体DNA继发突变位点研究

    Release date:2016-09-02 05:43 Export PDF Favorites Scan
  • A STUDY OF CHROMOSOMAL ABNORMALITY IN COLORECTAL CARCINOMA

    Cytogenetic study of 18 colorectal carcinomas confirmed the extensive heterogeneity and the complexity of the karyotypic picture in this tumor.Karyotypic analysis showed that chromosomes 7 and 3 were of the highest chromosomal gaining frequencies(72%,66%) and chromosomal losses were shown in chromosome 17(50%),chromosome5(44%) and chromosome 18(33%).The structual rearrangements frequently involved were 17p(78%),5q(61%),6q,7q,8p,12q,2p,etc.A great number of marker chromosomes and polyploid chromosomes had bad prognosis relatively.According to these results,we conclude that chromosomes 17,5,and 18 may play an important role in the evolution of colorectal cancer.

    Release date:2016-08-29 03:24 Export PDF Favorites Scan
  • 慢性阻塞性肺疾病个体化治疗与药物基因组学研究

    随着分子生物学、分子遗传学与分子药理学,特别是药物基因组学的发展,人们逐渐认识到,不同个体对同一药物的不同反应,大多源于基因的差异。由此,在遗传药理学的基础上,发展形成了药物基因组学这一新学科,以分子和基因水平上的研究揭示个体对药物不同反应的机制,为科学合理用药开拓了新的思路和途径。现就慢性阻塞性肺疾病患者常用药物的药物基因组学与个体化治疗进行综述。

    Release date:2016-09-08 09:16 Export PDF Favorites Scan
  • Research progress in the genetic pathogenesis of epilepsy and plant-based drug therapy

    Epilepsy is a chronic brain dysfunction disease with complex and diverse causes, but 70%-80% of patients do not have obvious characteristic phenotypic symptoms. In order to provide precise treatment for epilepsy patients, research on the genetic pathogenic factors and pathogenesis of epilepsy has attracted much attention. Different types of epilepsy are constantly found to be closely related to mutations in specific genes, such as SCN1A, KCNA2, KCNT1, GABRA1, TSCs, CDKL5, and so on. Therefore, the development of broad-spectrum antiepileptic drugs is very difficult. However, plant-based drugs or functional ingredients derived from traditional medicinal herbs, such as cannabinol, aconitine, and dodecenal, will expand the development of safer and more effective anti epileptic drugs.

    Release date:2023-10-25 09:09 Export PDF Favorites Scan
  • 母子同患Stargardt病

    Release date:2016-09-02 05:52 Export PDF Favorites Scan
  • 卵黄样黄斑变性一家系

    报告卵黄样黄斑变性一家系,共发现8人患病,分属于卵黄前期、卵黄期、破碎期和瘢痕期。文中对期临床表现及鉴别诊断等进行了简要讨论。该家系发病的遗传规律符合常染色体显性遗传。 (中华眼底病杂志,1993,9:110-111)

    Release date:2016-09-02 06:35 Export PDF Favorites Scan
  • 蓝锥细胞增强症

    蓝锥细胞增强症(ESCS)是一种少见的常染色体隐性遗传性视网膜疾病,通常与NR2E3突变相关常染色体隐性遗传有关。成年人主要表现为夜盲,眼底检查可以发现黄斑拱环周围视网膜深层团状色素沉着,不同程度的视网膜劈裂;儿童主要表现为夜盲、调节性内斜视以及视网膜损害。特征为视杆细胞功能缺失、S视锥细胞数量增多和功能异常增强、夜盲、视网膜电图明视反应以S视锥细胞介导的大振幅波为主。

    Release date:2016-09-02 05:48 Export PDF Favorites Scan
  • Research on performance optimization method of human-machine physical interaction system considering exoskeleton wearing comfort

    In order to improve the wearing comfort and bearing effectiveness of the exoskeleton, based on the prototype and working mechanism analysis of a relaxation wearable system for knee exoskeleton robot, the static optimization synthesis and its method are studied. Firstly, based on the construction of the virtual prototype model of the system, a comprehensive wearable comfort evaluation index considering the factors such as stress, deformation and the proportion of stress nodes was constructed. Secondly, based on the static simulation and evaluation index of system virtual prototype, multi-objective genetic optimization and local optimization synthesis of armor layer topology were carried out. Finally, the model reconstruction simulation data confirmed that the system had good wearing comfort. Our study provides a theoretical basis for the bearing performance and prototype construction of the subsequent wearable system.

    Release date:2023-02-24 06:14 Export PDF Favorites Scan
  • 蜂巢状视网膜营养不良一例

    Release date:2018-09-18 03:28 Export PDF Favorites Scan
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