Congenital hyperinsulinism (CHI) is a severe heterogeneous disorder due to dysregulation of insulin secretion from the pancreatic β-cells leading to severe hypoglycemia in the neonatal, infancy and ch
Background: Cystic fibrosis (CF) , the most common life-threatening autosomal recessive disorder in Caucasians, is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR)
目的：对河南汉族一成骨不全家系COL1A1基因突变进行检测分析，寻找其致病突变位点.方法：采用PCR技术和DNA直接测序法分析该家系患病者COL1A1基因所有外显子及内含子序列，并与该家系其他正常个体、50名健康个体及GeneBank序列进行比较分析.结果：该家系COL1A1基因共发现15个突变位点，其中包括1个错义突变、1个同义突变及13个内含子变异.该家系患病者均出现COL1A1基因第50外显
Copy Number Variation (CNVs) can be identified via single-nucleotide polymorphism (SNP)-based chromosomal microarray analysis (CMA) in fetus with ultrasound abnormality.However, uniparental disomy (UP
Background: Prenatal diagnosis of complete uniparental isodisomy of chromosome 4 (iUPD4) subjects has rarely been reported and poses a great challenge for genetic counseling.In this study, a prenatal
目的：前期结果显示miR-23a基因在癌组织中表达水平显著上调，提示其可能发挥癌基因的功能.本研究拟探讨miR-23a基因对喉癌患者预后的影响.方法：应用相关统计学方法分析miR-23a基因与喉癌患者临床病理学特点及预后生存情况的相关性.结果：1.Oneway-ANOVO分析结果显示肿瘤组织中高表达的miR-23a与喉癌的淋巴结转移及临床分级呈显著的相关性；2.Kaplan-Meier分析结果显示
Aims: to assess the association between maternal gene polymorphisms of the enzymes involved in Folate metabolism and the risk of having a DOWN Syndrome (DS)offspring in southern China mothers.Methods
As long been known, males are more susceptible to hepatocellular carcinoma(HCC) than females, but the reason still remains elusive.In this study, we found that long non-coding RNA five prime to Xist (
乙型肝炎病毒(HBV)相关的肝癌组织中普遍存在HBV基因组整合的现象,但是其与肝癌发病年龄的关系未见系统研究,对肝癌发生、发展、转移过程的影响机制也尚未阐明.本项目组研究采用一种新的高通量病毒整合检测方法(HIVID)进行筛选,经过对测序结果分析后,我们发现早发性肝癌的6个样品中总共有97个乙肝病毒整合位点而晚发性肝癌的6个样品中有104整合位点.然后,我们针对获得的整合位点采用PCR和测序的方法
目的：类脂蛋白沉积症(lipoidproteinosis,LP)为一种罕见的常染色体隐性遗传病,是由于细胞外基质蛋白基因1 (ECMI)突变所致.本研究对一LP家系进行了基因突变研究.病例和方法：先证者自出生后即出现无明显诱因声音嘶哑,一岁开始在面部,肘部出现小疱,反复发作、结痂,致面部逐渐形成萎缩性瘢痕,肘后呈苔藓化斑块；双眼睑缘有串珠样丘疹,视力未受影响.拟诊为类脂蛋白沉积症,其同胞兄长有类似