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目的应用高通量测序的染色体组拷贝数分析技术分析先天性心脏病胎儿基因组拷贝数变异(copy number variation,CNV),初步探讨高通量测序技术在胎儿先心病中的应用价值。方法对超声发现胎儿先天性心脏病患者进行脐血染色体检查,对于染色体核型正常者进而行高通量测序基因组拷贝数分析,相关CNV到相应数据库查找分析。结果共检测先心病胎儿28例:染色体异常者7例;染色体核型正常者21例。正常者中10例行高通量测序基因组拷贝数分析,未发现拷贝数变异者2例;有CNV改变的占8例,能检测到13处250 kb~13M染色体片段的CNV。其中4处存在临床意义不明确的CNV。结论高通量测序技术用于先天性心脏病遗传分析是可行的,所检测的CNV变异可以作为胎儿先心病遗传学数据的积累。
Objective To analyze the copy number variation (CNV) of fetal genome of congenital heart disease (CHD) by using high-throughput sequencing-based genome-wide copy number analysis and to explore the value of high-throughput sequencing in the diagnosis of fetal CHD. Methods The umbilical blood chromosomes were detected in patients with fetal congenital heart disease by ultrasound, and the copy number of high-throughput sequencing genomic copies were analyzed for the normal karyotypes, and the related CNVs were searched to the corresponding databases. Results A total of 28 fetuses with congenital heart disease were examined: 7 cases of chromosomal abnormalities; 21 cases of normal karyotypes. In normal subjects, 10 cases were analyzed by high-throughput sequencing genome copy number, and no copy number mutation was found in 2 cases. CNV changes accounted for 8 cases and 13 CNV fragments of 250 kb ~ 13 M were detected. Four of them had clinically significant CNV. Conclusion High-throughput sequencing technology is feasible for genetic analysis of congenital heart disease. The detected CNV variation can be used as the accumulation of genetic data of fetal congenital heart disease.