随着分子生物学及转化医学的迅速发展,耳聋基因诊断工作在全国很多地区已经陆续开展,如何构建及管理临床耳聋基因诊断实验室,是保证检测结果准确,减少试验误差的有力保证,本文根据卫计委相关部门出台的相关管理办法及工作导则,结合解放军总医院聋病分子诊断中心实验室的实际临床检测工作,从实验室区域划分、仪器配制、人员配备、检测项目及质量控制五个主要方面和同行交流、探讨临床耳聋基因诊断实验室构建及管理工作。%With the rapid development of molecular biology and translational medicine, the diagnosis of deafness genes has been gradually carried out in many parts of the country. It is very important to properly build and manage a clinical diagnostic laboratory to ensure accurate genetic testing. In light of the guidance of the National Health and Family Planning Commission and practice at the Deafness Genetic Testing Center of Chinese PLA General Hospital, we discuss laboratory con-struction and management from the following aspects,laboratory zoning, equipment preparation, staffing, testing and quality control.
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机译:罕见但相关的肾脏障碍,感觉耳聋,共济失调,智力延迟和蛋白突变中突变引起的电解质不平衡(芝麻综合征)。 Proc Natl Acad SCI U S A 106:5842-5847,2009ppsy,Ataxia,感觉耳聋,小管病和KCNJ10突变。 N Engl J Med 360:1960-1970,2009A在KV1.1电压门控钾通道的密码突变与人类常染色体显性低残碱血症相关。 J Clin Invest 119:936-942,2009肝病腹膜纤维化:发病率和临床介绍的前瞻性评价。医学88:193-201,2009Retropropeal纤维化:临床,实验室和放射线介绍。药物88:202-207,非典型溶血性尿毒症综合征中的2009例突变蛋白突变。 n Engl J Med 361:345-357,2009