高通量基因测序技术在自然流产遗传学分析中的应用

Application of next-generation sequencing technique in genetic analysis of patients with spontaneous abortion

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 next-generation sequencing technique on accuracy of genetic analysis of natural abortion villus and the detection rate of abnormal karyotype.Methods：Next-generation sequencing technique and bioinformatics analysis were used to detect the specimens of spontaneous abortion villus whose karyotype was 46,XY detected by conventional karyotype analysis technology.The results of two genetic analysis methods were compared.Results：The results of conventional karyotype analysis technology were that the karyotype of 14 specimens was 46,XY.The results of next-generation sequencing technique were that the karyotype of 14 specimens was 46,XY,of which 6 （43％）showed copy number variation （CNV）and 250 kb-16.5 M chromosome segment change.The advantages of next-generation sequencing technique were shorter time and higher detection rate for chromosome abnormalities compared with conventional karyotype analysis technology.Conclusions：Next-Generation sequencing technique is more sensitive,efficient and high detection rate in detecting chromosome abnormalities.It could be a supplementary method of conventional karyotyping technology.