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目的初步探讨高通量测序技术在自然流产绒毛遗传学分析准确性和异常核型检出率中的作用。方法采用高通量测序和生物信息分析技术,选取常规染色体核型分析结果为46,XY的自然流产绒毛样本进行检测,比较两种检测结果的一致性及差异。结果 (1)常规染色体核型分析技术:14例样本染色体核型分析结果均为46,XY。(2)高通量测序技术:14例样本染色体核型均为46,XY,有拷贝数变异(CNV)改变的占43%(6/14),能检测到250kb~16.5M染色体片段的改变。(3)通过两种检测方法的比较,发现高通量测序技术检测时间短,对染色体结构异常有更高的检出率。结论高通量测序技术更敏感、高效,具有更高的染色体异常检出率。可作为常规染色体核型分析的补充检测手段。
Objective To explore the role of high-throughput sequencing in the accuracy of genetic analysis of spontaneous abortion and the detection rate of abnormal karyotype. Methods High-throughput sequencing and bioinformatics analysis were used to detect spontaneous abortion samples with chromosome 46 and XY genotypes. The consistency and differences between the two methods were compared. Results (1) Conventional karyotype analysis technique: The karyotype analysis results of 14 samples were all 46, XY. (2) High-throughput sequencing technology: The karyotypes of all 14 samples were 46, XY, and 43% (6/14) with the change of copy number (CNV), and the changes of 250kb ~ 16.5M were detected . (3) Through the comparison of two detection methods, it was found that high-throughput sequencing technology has a short detection time and a higher detection rate for chromosomal structural abnormalities. Conclusion High-throughput sequencing is more sensitive and efficient and has a higher detection rate of chromosomal abnormalities. Can be used as a routine karyotype analysis of complementary detection means.