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目的 建立高苯丙氨酸血症(HPA)相关基因的快速分子诊断方法,以使HPA 患儿尽早得到正确的治疗。方法 51 例临床诊断为HPA的患儿和1 例正常对照被分为两组：标准组15 例(14 例HPA 患儿和1 例正常对照)且DNA 序列已知；检测组37 例,DNA 序列未知。
基于Ion Torrent PGM的高苯丙氨酸血症分子诊断技术
【摘 要】
：
目的 建立高苯丙氨酸血症(HPA)相关基因的快速分子诊断方法,以使HPA 患儿尽早得到正确的治疗。方法 51 例临床诊断为HPA的患儿和1 例正常对照被分为两组：标准组15 例(14 例HPA 患儿和1 例正常对照)且DNA 序列已知；检测组37 例,DNA 序列未知。
【机 构】
：
首都儿科研究所医学遗传研究室
【出 处】
：
第十届全国检验与临床学术会议暨2015年中国医师协会检验医师年会
【发表日期】
：
2015年3期
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