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

发布时间：2018-09-14 14:30

【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。
[Abstract]:Objective to investigate the genetic characteristics of fetal CHD by detecting the copy number variation (CNVs),) of chromosomal gene of congenital heart malformation (CHD) fetus by whole genome low coverage sequencing. Methods CHD fetal umbilical cord tissues were collected and the relationship between CNVs, and clinical parameters was detected by whole genome low coverage sequencing technique. Results 8 cases of abnormal CNVs were detected in 22 cases of CHD fetus, the abnormal rate was 36.4%. Pathogenicity of CNVs was abnormal in 4 cases (trisomy 18 syndrome, 1 case in cat's call syndrome), and in 5 cases of (VOUS) with unknown pathogenicity, including 3q29del 1.66 MN 3q28del 0.24 MbP 15q77.1q11.2dup 2.38Mbxdup 0.4MXq26.3DUP 0.4Mb, and 1 case of 3q29del 1.66MN 3q28del 0.24Mbtrope 15q77.1q11.2dup 2.38Mbxdup 0.4MXq26.3DUP 0.4Mb. Conclusion there is a close relationship between CHD and CNVs in fetal stage. Low coverage sequencing of whole genome is helpful to find CNVs. associated with genetic susceptibility of CHD.
【作者单位】：南京市江宁区中医医院检验科;南京医科大学附属常州妇幼保健院;
【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)
【分类号】：R714.53;R440

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