常染色体显性遗传的多囊肾(Autosomal dominant polycystic kidney disease,ADPKD)是遗传性肾病中最为常见的一种,其临床表现异质.ADPKD 主要是由于PKD1或 PKD2 基因突变引起.由于PKD1 基因结构复杂,有6 个假基因在1-33 外显子周围,给基因检测带来困难,因此,相关的基因检测在中国鲜有报告.材料与方法:我们设计了一款遗传性肾病的捕获芯片
遗传性对称性色素异常症(DSH),又称为对称性肢端色素沉着,是一种少见的常染色体显性遗传皮肤病,临床特征表现主要在四肢的背部出现不对称的网状色素沉着斑和色素减退斑,本文报道1 个DSH 的家系和2 例散发的DSH 患者,家系中先证者及母亲,和2 例无血缘关系的散发患者双手、足背都出现散在褐色斑点,夏季日光暴露部位皮损加重,色素加深,除了皮损外,临床检测指标均显示无异常.采集患者及父母的外周血3ml
通过前期的研究工作发现,小菜蛾溴氰菊酯抗性品系与敏感品系相比,泛素(ubiquitin)和蛋白酶体亚基6(prosalpha6)的表达水平显著提高,小菜蛾泛素基因RNA 干扰(RNA interference,RNAi)以及黒腹果蝇细胞中泛素基因过表达结果均证明泛素基因的表达水平与小菜蛾対溴氰菊酯的应激相关,但是prosalpha6 与溴氰菊酯应激的关系还没有研究报道。为了探究prosalpha6
Drug-induced aberrant DNA methylation is the first identified epigenetic marker involved in chemotherapy resistance.Understanding how the aberrant DNA methylation is acquired would impact cancer treat
The molecular mechanisms underlying cutaneous malignant melanoma(CMM)development and progression are still poorly understood.Various gene expression analyses have been performed to identify genes invo
In this study we aim to investigate target-regulatory miRNA of cutaneous malignant melanoma(CMM)key disease-causing gene CCL18 and analysis expression of predicted miRNA and CCL18,as well as their cor
We previously identified ovostatin 2 as a new candidate gene of cutaneous malignant melanoma in a Chinese population.In the current study,we aim to investigate the exact role of ovostatin 2 in cell pr
The CC chemokine ligand 18(CCL18)protein is a CC chemokine that takes an important part in normal and inflammatory conditions.Moreover,CCL18 has a higher expression in some tumors,while the serum CCL1
介绍了沙门氏菌、禽结核病、炭疽、李氏杆菌病等13种人畜共患细菌性疾病的发病机理、典型症状及易感动物,以切实有效控制人畜共患细菌性疾病在动物园的发生.