全基因组低覆盖度测序技术检测胎儿先天性心脏病拷贝数变异  

Investigation on the copy number variations in fetal congenital heart disease by low-coverage whole-genome sequencing

作　　者：王武琴 周文柏[2] 刘建兵[2] 贾赛玉[2] 顾建东[2] 欧阳俊[2] 虞斌[2] WANG Wu-qin ZHOU Wen-hai LIUfian-bin JIA Sai-yu GU Jian-dong OUYANG Jun YU Bin(Department of Clinical Laboratory, Jiangning District Hospital of Traditional Chinese Medicine, Nanjing 211100, Jiangsu Central Laboratory, Changzhou Women and Children Health Hospital Affiliated to Nanjing Medical University, Changzhou 213003, Jiangsu, China)

机构地区：[1]南京市江宁区中医医院检验科,南京211100 [2]南京医科大学附属常州妇幼保健院,江苏常州213003

出　　处：《临床检验杂志》2016年第11期839-842,共4页Chinese Journal of Clinical Laboratory Science

基　　金：常州市高层次卫生人才培养工程资助(2016CZLJ013);常州市科技支撑计划(社会发展)(CE20155055)

摘　　要：目的采用全基因组低覆盖度测序技术检测先天性心脏畸形(CHD)胎儿染色体基因拷贝数变异(CNVs),探讨胎儿期CHD遗传学特征。方法采集CHD胎儿脐带组织,用全基因组低覆盖度测序技术检测CNVs,分析其与临床参数的关系。结果22例CHD胎儿共检出CNVs异常8例,异常率为36.4%。其中致病性CNVs异常4例(18三体综合征、13三体综合征、Di George综合征、猫叫综合征各1例),致病性未知的CNVs异常(VOUS)5例,包括3q29del 1.66M、3q28del 0.24Mb、15q77.1q11.2dup 2.38Mb、Xdup 0.4M、Xq26.3dup 0.4Mb各1例。结论胎儿期CHD与CNVs关系密切,全基因组低覆盖度测序技术有助于发现与CHD遗传易感相关的CNVs。Objective To detect the copy number variations（ CNVs） of chromosomes from fetuses with congenital heart disease（ CHD） by the low-coverage whole-genome sequencing,and explore the genetic characteristics of fetal CHD. Methods Genome DNAs were extracted from umbilical cord tissues of CHD fetuses,and chromosome CNVs were detected by the low-coverage whole-genome sequencing. Then,the relationships between CNVs and clinical parameters were analyzed. Results The abnormal rate of CNVs was 36. 4%（ 8/22）,including 4 abnormal CNVs with known pathogenicity（ 1 case of trisomy 18,1 trisomy 13,1 Di George syndrome and 1 Cri-du-chat syndrome） and 5 with unknown pathogenicity（ 1 case of 3q29 del 1. 66 M,1 3q28 del 0. 24 Mb,1 15q77. 1q11. 2dup2. 38 Mb,1 X dup 0. 4M and 1 Xq26. 3dup 0. 4Mb）. Conclusion Fetal CHD is closely related to CNVs,and the low-coverage wholegenome sequencing technology may help to find CNVs involved in CHD genetic susceptibility.

关 键 词：先天性心脏病 拷贝数变异 全基因组低覆盖度测序技术 胎儿 

分 类 号：R714.53[医药卫生—妇产科学]