目的鉴定一个非肌性肌球蛋白重链9基因(myosin heavy chain 9,MHY9)相关疾病家系的基因突变类型并分析其表型特点。方法对先证者及其家系成员采集外周静脉血,分别进行血常规检查,包括血小板计数和外周血瑞氏染色分析观察粒细胞包涵体和巨大血小板。用PCR扩增先证者及家系成员和正常对照者MYH9基因的第2、17、27、31、39、41外显子,直接测序法分析PCR产物的核苷酸序列,确定其突变位点。结果家系中的患者有典型的"血小板减少、巨大血小板、粒细胞包涵体"三联征,2例患者有肾炎、白内障。家系中所有患者在MYH9基因上的第39外显子第5521位核苷酸均存在杂合错义突变c.5521G>A(p.Glu1841Lys),正常对照及家系中正常成员未见此突变。结论该家系存在MYH9基因c.5521G>A(p.Glu1841Lys)突变,导致MYH9相关疾病。
本文在中国老龄化加速背景下,探讨了老年群体的电商消费的经济基础、客户肖像、未来路径。通过评估国家政策对电子商务和银发经济发展的引导和支持作用,包括市场准入、监管体系和创新支持领域,对老年电商产业进行分析,揭示了银发人群在电商消费中的需求特征和行为模式及电商消费潜力的广阔前景。文章针对老年人电商消费中存在的政策不完善、数字鸿沟、电商服务欠缺以及消费权益保护等困境,提出了一系列优化建议,旨在激发老年人口消费潜力,以保障老年人的数字消费权益,推动银发经济的高质量发展。This paper explores the economic foundation, customer portrait, and future path of e-commerce consumption of the elderly population in the context of accelerated aging in China. By assessing the role of national policies in guiding and supporting the development of e-commerce and the silver-haired economy, including the areas of market access, regulatory system, and innovation support, it analyzes the elderly e-commerce industry, revealing the demand characteristics and behavioral patterns of the silver-haired population in e-commerce consumption and the broad prospects of e-commerce consumption potential. The article puts forward a series of optimization suggestions for the dilemmas of imperfect policies, digital divide, lack of e-commerce services, and protection of consumer rights and interests in the e-commerce consumption of the elderly, aiming to stimulate the consumption potential of the elderly population, in order to safeguard the rights and interests of the digital consumption of the elderly, and to promote the high-quality development of the silver-haired economy.
