基于全外显子组测序技术的遗传性血液病分子诊断技术体系  

Molecular Diagnosis Technological System of Genetic Hematological Diseases Based on Whole-Exome Sequencing

作　　者：李本尚[1] 丁丽霞 梁欢欢 王邢玮 陈静[1] 

机构地区：[1]上海交通大学医学院附属上海儿童医学中心血液肿瘤科,200127 [2]国家卫生和计划生育委员会儿童血液肿瘤重点实验室

出　　处：《国际输血及血液学杂志》2014年第5期412-416,共5页International Journal of Blood Transfusion and Hematology

基　　金：上海市科学技术委员会资助项目（10411965100,11JC1408100）;上海市教育委员会科研创新资助项目（20IOZ14180026）

摘　　要：目的 探讨通过全外显子组测序技术建立遗传性血液病的分子诊断技术体系.方法 选择2013年6月至2014年3月于上海交通大学医学院附属上海儿童医学中心就诊的临床表现不典型,但高度怀疑为遗传性血液病的3例患者为研究对象.通过全外显子组测序技术筛选3例患者的候选致病基因的突变位点,并采用基于毛细管电泳技术的Sanger法测序和家系分析对其突变位点进行验证.结果 通过全外显子组测序技术发现了3例患者相应的遗传学损伤,并采用Sanger法对患者及其父母的致病基因位点的测序进行验证,验证结果与患者的遗传学损伤相符,每例患儿均获得了明确的分子诊断结果.结论 在遗传性血液病的分子诊断中,全外显子组测序是候选基因靶向测序的重要补充,且在一定程度上可提高疾病的诊断符合率.Objective To set up the molecular diagnosis technological system of genetic hematological diseases through whole-exome sequencing.Methods From June 2013 to March 2014,three patients who were atypical but highly suspicious of genetic hematological disease and diagnosed in Shanghai Children＇s Medical Center were enrolled into this study.Determine the candidate damaged sites of gene involved through whole-exome sequencing and validate by capillary electrophoresis of Sanger method and lineage analysis.Results Genetic damages were found in all of these 3 patients through whole-exome sequencing and were allconfirmed in patients and their parents by capillary electrophoresis of Sanger method.In the end,all of these 3 patients received substantiate diagnosis.Conclusions Whole-exome sequencing based diagnosis is an important complement to target sequence in genetic hematological diseases and it will be helpful to improve the diagnose accordance rate.

关 键 词：全外显子组测序 血液病 遗传学 分子诊断技术 

分 类 号：R725.5[医药卫生—儿科]