中国实用儿科杂志2017，Vol.32Issue(7)：491-496,6.DOI:10.19538/j.ek2017070604
原发性免疫缺陷病分子诊断及新发原发性免疫缺陷病
Molecular diagnosis of primary immunodeficiencies and newly identified primary immunodeficiency diseases
摘要
Abstract
Primary immunodeficiencies (PIDs) are a type of rare disease characterized by a defect in the components of host immune system,the majority of which are monogenic diseases.Molecular diagnosis is important to the precision management of PIDs.Traditional Sanger sequencing and next-generation sequencing(NGS) are the major tools.Although the former one is the gold standard of checking single target gene and of confirming NGS results,NGS is also in increasing demand in clinical practice.Both of them have pros and cons,and are complementary to each other.A 4-step approach strategy comprising Sanger sequencing and NGS is proposed for the molecular diagnosis of PIDs by the author.Some suggestions for the NGS application are also provided.关键词
原发性免疫缺陷病/分子诊断/Sanger测序/下一代测序/全外显子组测序/全基因组测序Key words
primary immunodeficiency disease/molecular diagnosis/Sanger sequencing/next-generation sequencing/whole exome sequencing/whole genome sequencing分类
医药卫生引用本文复制引用
毛华伟..原发性免疫缺陷病分子诊断及新发原发性免疫缺陷病[J].中国实用儿科杂志,2017,32(7):491-496,6.基金项目
国家自然科学基金面上项目(81671626) （81671626）
深圳市未来产业发展专项[深圳市发改委(2015)164] （2015）
