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作 者:袁永一[1,2,3] 王国建[1,2,3] 韩明昱[1,2] 戴朴[1,2]
机构地区:[1]解放军总医院耳鼻咽喉头颈外科 [2]解放军总医院聋病分子诊断中心,北京100853 [3]解放军总医院海南分院耳鼻咽喉头颈外科,三亚572000
出 处:《中华耳科学杂志》2014年第2期337-339,共3页Chinese Journal of Otology
基 金:国家十二五支撑项目(2012BAIB02);卫生部行业专项基金(201202005);国家自然科学基金重点项目(81230020);国家自然科学基金面上项目(81371096,81371098);北京市自然科学基金面上项目(7132177);北京市科技新星计划(2009B34,2010B081);国家重点基础研究发展计划(973计划)(No.2014CB541706);科技部863计划(No.2012AA020101)
摘 要:耳聋是全球面临的公共卫生问题。60%的耳聋由遗传因素导致。耳聋分子诊断可以为聋哑家庭明确病因,减少出生缺陷的发生。随着全国性聋病分子流行病学调查的完成及新型高通量分子诊断技术的出现,耳聋分子诊断将在国内成为临床常规,因此,相关专业人才需求加大。本文将从耳聋分子诊断实验室人员组成及各级人员的培养框架进行阐述,期望有助于耳聋分子诊断团队的建设,服务更多的耳聋患者及其家属。Deafness is a public health problem worldwide. Hereditary factor accounts for 60 percent of deafness. Genet-ic testing is a powerful means not only for clarifying the molecular pathogenesis of hearing loss but also for lessening birth de-fect. In China, with the accomplishment of molecular epidemiological survey on deafness and the appearance of high through-put molecular diagnostic techniques, deafness genetic testing is going to be a routine procedure in otology clinic. Thus the need for professionals in this field will greatly increase. This report describes the framework of personnel organization and training in a specialty laboratory for deafness genetic diagnosis to hopefully help others construct expert teams and better serve hearing loss patients as well as their family members who need genetic testing and counseling.
分 类 号:R394.34[医药卫生—医学遗传学]
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