应用SNP array检测流产物三倍体

Application of SNP array in triploid detection from abortion samples

目的染色体微阵列技术(CMA)使用的基因芯片一般为SNP array、array CGH,分别使用这两种基因芯片对流产物进行CMA检测,对比两种芯片对流产物三倍体检测的准确性。方法应用SNP array基因芯片,对2016年6月至2017年10月在广东省妇幼保健院就诊397例患者的流产物进行SNP array检测;并对SNP array结果为三倍体的行定量荧光PCR(QF-PCR)验证;对69,XXY和69,XXX流产物用array CGH进行检测。结果SNP array检测出8例三倍体,3例69,XXY,4例69,XXX,1例亚三倍体68,XX;SNP array检测结果与QF-PCR结果一致;array CGH不能检测出流产物三倍体。结论 SNP-array相对array CGH能有效检出流产物三倍体,减少误诊、漏诊,对评估再生育风险及遗传咨询有重要意义。

Objective Gene chips applied in chromosome microarray analysis (CMA) mainly include SNP array and array CGH.In this study,SNP array and array CGH were used to detect triploids in the abortion samples,respectively,and the results about the accuracy of triploid detection through these two gene chips were compared. Method With the application of SNP array,397 abortion samples collected in Guangdong Provincial Women and Children Health Hospital from June 2016 to October 2017 were examined by CMA technique.For those triploid samples,as evidenced by SNP array,quantitative fluorescent PCR (QF-PCR) was applied on them to make a further test.Array CGH was used to detect 69,XXY and 69,XXX triploids in the abortion samples. Results 8 cases of triploid have been detected by SNP array.Among them 3 cases were 69,XXY,4 cases were 69,XXX and one case was hypo-triploid 68,XX.The result of QF-PCR was consistent with the result of SNP array.Array CGH,however,failed to detect triploids. Conclusions SNP array is more effective than array CGH in detecting triploids from abortion samples,and thus can reduce the erroneous diagnosis or missed diagnosis,and is of great importance in evaluating the risks of bearing child again and genetic counseling.