中国汉族早发型帕金森病人群PARK2基因突变的多态性分析

目的 观察散发性早发帕金森病(Parkinson s disease, PD)患者遗传易感基因突变的形式和分布,探讨易感基因突变在PD发病中的可能作用。 方法　病例组由30例散发性早发帕金森患者组成。抽取病人外周血提取DNA，以基因组DNA为模板, 通过PCR扩增PARK2基因的第1、4、6、7号外显子。比对PCR产物测序后的突变情况。结果 发现样本中存在突变,在正常人中存在单核苷酸多态性(single nucleotide polymorphism, SNP)。结论　PARK2基因外显子的突变是我国散发性早发PD患者的致病原因之一。

Polymorphism analysis of PARK2 gene mutations in Han Chinese patients with early-onset Parkinson's disease

Abstract Cognitive function in the elderly is affected by various environmental, social, and individual factors. Studies show that chemical trace elements are closely related to cognitive function. As a protective factor, selenium promotes cognition in the elderly. However, study results into the effects of selenium on cognition have varied. By eliminating unstable environmental and other related factors, the present study selected elderly individuals from rural areas of the Shandong province to verify whether low selenium exposure is a risk factor for decreased cognitive function. Results demonstrated that age, sex, education, occupation, hypertension, stroke, and body selenium levels were factors affecting cognitive function in the elderly, and that selenium was an important protective factor. Moreover, results supported the hypothesis that a lifelong low selenium level is associated with low cognitive function.Key Words: elderly; rural areas; cognitive function; influential factors; selenium level; Alzheimer's disease; epidemiology; cohort study