Investigation of prion protein gene in 10 sporadic Creutzfeldt-Jakob disease patients: a new novel mutation of prion protein gene 散发性Creutzfeldt-Jakob病患者10例prion基因研究
AIM: To explore the distribution of alpha 2 macroglobulin(α 2 MG) polymorphism in patients with sporadic Alzheimer` s disease ( AD), and analyze the proportion of the(α 2 MG) gene mutation in AD patients in China. 目的:探讨中国散发性阿尔茨海默病(Alzheimer'SDisease,AD)患者α2-巨球蛋白基因(α2-MG)多态性分布的情况,分析中国AD患者α-巨球蛋白基因突变比例。
Objective To explore the mutation of RET gene exon 11 in sporadic medullary thyroid carcinoma and to clarify the relationship between RET mutation and sporadic medullary thyroid carcinomas. 目的分析散发型甲状腺髓样癌RET基因第11外显子碱基序列,明确RET基因突变与散发型甲状腺髓样癌的关系。
Objective To detect the mutation frequency and mutation type of tumor suppressor PTEN in sporadic breast carcinoma tissues, and to investigate the association of PTEN gene mutation and sporadic breast cancer. 目的了解抑癌基因PTEN在乳腺癌组织中的突变频率和突变类型,探讨PTEN突变与散发性乳腺癌的关系。
So far, 20 percent of fALS and 4% Sporadic amyotrophic lateral sclerosis ( sALS) have the SOD1 gene mutation and more than 100 kinds of mutation have been identified. 到目前为止,已确定在20%fALS和4%的散发性肌萎缩侧索硬化(sALS)中有SOD1基因突变,其突变数目已超过100种。
This report performed DNA screening mainly in sporadic idiopathic nocturnal frontal lobe epilepsy and part of the familial nocturnal frontal lobe epilepsy cases in China. No gene mutation in known regions of neuronal nicotinic acetylcholine receptor ( nAChR) was found. 本研究主要针对我国散发性夜间额叶癫痫及部分家族性夜间额叶癫痫病例进行基因筛查,没有发现神经元烟碱乙酰胆碱受体(nAChR)目前已经确定的位点的基因突变。