摘要
目的探讨基于Ion Torrent半导体测序的遗传代谢病基因诊断Panel的临床应用价值。方法收集109例串联质谱筛查可疑代谢病患儿及其父母的外周血标本,用基因Panel进行检测,可疑突变经Sanger测序验证。结果 109例患儿中有97例(88.99%)基因诊断明确,其中96例检测到存在与临床症状相符的2个等位基因致病突变,1例鸟氨酸氨甲酰转移酶缺乏症为男性半合子; 11例(10.09%)仅检测到1个等位基因致病突变; 1例(0.92%)未检测到致病性突变。结论基因Panel在临床疑似遗传代谢病的检测中有较高的阳性诊断率,可为串联质谱筛查后续临床治疗和遗传咨询提供依据。
Objective To discuss the clinical application value of Ion AmpliSeqTM Inherited Disease Panel semiconductor chip sequencing in genetic diagnosis for metabolic diseases. Methods Peripheral blood samples of 109 children patients and their parents,who were suspected as inborn errors of metabolism diseases by neonatal screening with tandem massspectrometry,were collected. Ion AmpliSeqTM Inherited Disease Panel was carried out and the suspicious mutations were verified by Sanger sequencing. Results In the 109 cases,97 cases (88.99%) allowed definitely genetic diagnosis. Among them,pathogenic mutations of two alleles were detected in 96 cases. A case of ornithine transcarbamylase deficiency was male hemizygous. Only one pathogenic mutation was detected in 11 cases (10.09%) . No pathogenic mutation was detectable in the 1 case (0.92%) . Conclusion Ion AmpliSeqTM Inherited Disease Panel may exhibit high positive rate in the application for the diagnosis of the children with high risk of inborn errors of metabolism diseases and provide the evidences for the subsequent clinical treatment and genetic counseling.
作者
孙云
马定远
王彦云
蒋涛
SUN Yun;MA Dingyuan;WANG Yanyun;JIANG Tao(Genetic Medicine Center,Women's Hospital of Nanjing Medical University,Obstetrics and Gynecology Hospital,Nanjing 210004,Jiangsu,China)
出处
《临床检验杂志》
CAS
CSCD
2018年第11期813-816,共4页
Chinese Journal of Clinical Laboratory Science
基金
国家自然科学基金(81671475)
南京市医学科技发展重点项目(ZKX14041)
南京医科大学科技发展基金(2016NJMU113)
