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目的建立一种基于染色体特异位点测序进行无创产前检测的方法,以替代目前传统的基于全基因组测序的无创产前检测技术。方法采集200例已知胎儿核型的孕妇血浆样本,通过数据库筛选挑选出13、18、21号染色体上特异性的位点,通过探针捕获的方式进行特异性片段的捕获,针对特异性片段进行测序分析,通过Z值计算来判断是否存在染色体非整倍体异常。结果染色体特异位点筛选法检出7例21三体胎儿、3例18三体胎儿,1例13三体胎儿,结果与全基因组高通量测序法一致。结论基于染色体特异位点测序法具有检测成本低、检测通量高的优势,有望替代全基因组高通量测序法进行无创产前筛查。
Objective To establish a non-invasive prenatal detection method based on chromosome-specific site sequencing to replace the traditional non-invasive prenatal detection technology based on genome-wide sequencing. Methods The plasma samples of 200 pregnant women with known fetal karyotype were collected. The specific sites on chromosomes 13, 18, and 21 were selected by database screening. The specific fragments were captured by probe capture. Specific fragments Perform sequencing analysis to determine if there is an aneuploidy on the Z-score. Results Seven chromosomes 21 trisomy, three trisomy 18 fetuses and one trisomy 13 fetus were detected by chromosome-specific site screening. The results were consistent with the whole genome high-throughput sequencing. Conclusion Chromosomal-specific site-based sequencing has the advantages of low detection cost and high detection throughput, and is expected to replace non-invasive prenatal screening with genome-wide high-throughput sequencing.