發(fā)布時間：2018-09-14 14:30

【摘要】：目的采用全基因組低覆蓋度測序技術(shù)檢測先天性心臟畸形(CHD)胎兒染色體基因拷貝數(shù)變異(CNVs),探討胎兒期CHD遺傳學(xué)特征。方法采集CHD胎兒臍帶組織,用全基因組低覆蓋度測序技術(shù)檢測CNVs,分析其與臨床參數(shù)的關(guān)系。結(jié)果22例CHD胎兒共檢出CNVs異常8例,異常率為36.4%。其中致病性CNVs異常4例(18三體綜合征、13三體綜合征、Di George綜合征、貓叫綜合征各1例),致病性未知的CNVs異常(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。結(jié)論胎兒期CHD與CNVs關(guān)系密切,全基因組低覆蓋度測序技術(shù)有助于發(fā)現(xiàn)與CHD遺傳易感相關(guān)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.
【作者單位】： 南京市江寧區(qū)中醫(yī)醫(yī)院檢驗科;南京醫(yī)科大學(xué)附屬常州婦幼保健院;
【基金】：常州市高層次衛(wèi)生人才培養(yǎng)工程資助(2016CZLJ013) 常州市科技支撐計劃(社會發(fā)展)(CE20155055)
【分類號】：R714.53;R440

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