Search

头颜面骨形成不全综合征与视神经萎缩一家系

RB1基因的一生殖细胞系新生突变致视网膜母细胞瘤

The relationship of high density lipoprotein cholesterol and cholesterol ester transfer protein TaqIB mutation in non-arteritic anterior ischemic optic neuropathy

ObjectiveTo investigate the association of high density lipoprotein cholesterol (HDL-C) and cholesterol ester transfer protein (CETP) TaqIB mutation with non-arteritic anterior ischemic optic neuropathy (NA-AION) in the Shaanxi Han ethnic population. MethodsThe study cohort consisted of 45 individuals that had been diagnosed with NA-AION and 45 healthy controls (matched for age, gender). None of the cases or controls had a history of diabetes, serious cardio-cerebral vascular diseases, liver and kidney dysfunction that might influence plasma lipid levels. Plasma HDL-C was detected by enzyme-linked immunosorbent one-step, through the Toshiba TBA-40FR automatic biochemical analyzer. CETP TaqIB gene polymorphism was determined by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) techniques for analysis. B2B2 genotype was only a fluorescence band with 535 bp; B1B1 genotype was 2 fluorescence bands with 361, 174 bp; B1B2 genotype was 3 fluorescence bands with 535, 361, 174 bp. The relative risk of genotype, HDL-C and disease occurrence was analyzed by logistics regression analysis. ResultsThere have no significant difference between NA-AION patients and controls about plasma total cholesterol level and triglyceride level (t=1.907, 1.877; P > 0.05). The plasma HDL-C levels were significantly lower in NA-AION patients than in controls (t=2.367, P=0.022). Compared with controls, the prevalence of B1B1 genotype and B1 allele was higher (χ2=17.289, P=0.001), the prevalence of B2 allele (χ2=15.648, P=0.000) was lower in NA-AION patients. The lower concentration of HDL-C was risk factor of NA-AION (odds ratio=6.143, 95% confidence interval 1.262-29.895, χ2=27.676;P=0.013). The proportion of B1B1 genotype was significantly higher in NA-AION patients than in controls (odds ratio=2.24, 95% confidence interval 2.427-36.323, χ2=10.526; P=0.001). ConclusionsThe low plasma HDL-C is independent risk factor for NA-AION and is associated with the development of NA-AION in the Shaanxi Han ethnic population. CETP TaqIB mutation is associated with low plasma HDL-C in NA-AION in the Shaanxi Han ethnic population.

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)

卵黄样黄斑营养不良基因三个新的点突变与散发性Best病表现型关系的分析

早产儿视网膜病变的分子遗传学研究进展

早产儿视网膜病变（ROP）是以视网膜新生血管化为特征的多因子 疾病。除了早产、 低出生体重、吸氧史等已知的危险因素外，近年来研究表明，遗传因素可能参与了ROP的病 变过程，相关基因的遗传多态性不仅为ROP发生的危险因素，也可能促进了病变的不断进展 。

遗传性先天性视乳头大生理凹陷一家系

无家族史及系统表现的双眼玻璃体淀粉样变性一例

Stargardt病的研究现状

Stargardt病(STGD)系一种遗传性疾病，眼底表现为黄斑部外侧对称的萎缩性改变，呈ldquo;靶心rdquo;状外观，可伴有眼底黄色斑点，荧光素眼底血管造影显示 特异的暗脉络膜征，吲哚青绿眼底血管造影证实有黄斑区的脉络膜毛细血管萎缩或充盈迟缓。近年来，分子遗传学研究已初步揭示了该病的致病相关基因位点。就有关该病的临床表现、发病机制和遗传学研究现状作一介绍。 （中华眼底病杂志，2000，16：213-284）

基因启动子甲基化在癫痫的研究进展

DNA 甲基化是人类发现最早的表观遗传学修饰之一，具有多种调控功能，参与机体发育过程中干细胞生长、细胞增殖、器官发育、衰老和肿瘤发生等多个生物学过程，而且在突触重塑、神经细胞分化等神经生物过程中也具有重要作用。近年来，越来越多的研究表明 DNA 甲基化修饰与癫痫的发病机制密切相关，特别是基因启动子的甲基化改变逐渐受到关注。文章主要对表观遗传中基因启动子区的甲基化在癫痫发生发展中的研究进展进行综述。