2020 年第 9 期 第 15 卷

高通量测序染色体拷贝数嵌合型结果分析模型的建立及其对性染色体嵌合体和多倍体异常的鉴别价值

Establishment of an analysis model of high-throughput sequencing chromosome copy number chimerism and its value in the identification of sex chromosome chimera and polyploid abnormality

作者：高铭1庞泓1赵艳辉1牛菊敏2刘岩松2程昭霞3冯小静4刘丽英5

英文作者：Gao Ming1 Pang Hong1 Zhao Yanhui1 Niu Jumin2 Liu Yansong2 Cheng Zhaoxia3 Feng Xiaojing4 Liu Liying5 

单位：1沈阳市妇婴医院遗传科110001；2沈阳市妇婴医院妇科110001；3沈阳市妇婴医院辅助生殖门诊110001；4沈阳市妇婴医院产科门诊110001；5沈阳市妇婴医院生殖中心110001

英文单位：1Department of Heredity Shenyang Women′s and Children′s Hospital Shenyang 110001 China; 2Department of Gynaecology Shenyang Women′s and Children′s Hospital Shenyang  110001 China; 3Assisted Reproduction Clinic Shenyang Women′s and Children′s Hospital Shenyang 110001 China; 4Obstetric Clinic Shenyang Women′s and Children′s Hospital Shenyang 110001 China; 5Reproductive Center Shenyang Women′s and Children′s Hospital Shenyang 110001 China

关键词：高通量测序技术；嵌合体；染色体拷贝数变异；限制性胎盘嵌合

英文关键词：High-throughputsequencing;Chimera;Chromosomecopynumbervariations;Confinedplacentalmosaicism

• 摘要：

• 目的 应用高通量测序技术（NGS）检测流产组织标本，总结并设计一个数字化模型，探讨其对性染色体嵌合体和多倍体异常的鉴别价值。方法 收集沈阳市妇婴医院2015年8月至2017年1月流产组织标本108份，取实验用绒毛组织，常规提取组织标本DNA，严格按照试剂盒提供的说明书进行NGS检测，同时进行荧光原位杂交技术（FISH）检测，设计构建高通量测序嵌合型结果分析模型，并以此模型重新分析108份标本的测序平台检测结果。结果 模型重新分析108份标本的测序平台检测结果中106例与FISH检测结果完全相符，另外1例（F9）患者模型重分析结果诊断为多倍体，FISH结果为多倍体和二倍体核型的嵌合体；1例（F10）患者NGS平台检测结果诊断为多倍体，FISH结果为两种二倍体核型的嵌合体。结论 分析模型对NGS结果鉴别性染色体嵌合体和多倍体异常可提供更直观的结果提示，可以用于生物信息计算平台以提高其运算能力，提高染色体拷贝数检测准确率。

• Objective High throughput sequencing (NGS) was used to detect abortive tissue samples, and a digital model was designed to investigate its value in distinguishing sex chromosome chimera and polyploid abnormalities. Methods Totally 108 abortion tissue samples admitted to Shenyang Women′s and Children′s Hospital from August 2015 to January 2017 were collected. The experimental villi were taken and the DNA of tissue samples was extracted routinely. NGS detection was carried out in strict accordance with the instructions provided by the kit, and fluorescence in situ hybridization (FISH) detection was also carried out. A high-throughput sequencing chimeric result analysis model was designed and constructed, with which the detection results of the sequencing platform of 108 samples were analyzed again. Results Totally of 106 cases in 108 samples reanalyzed by the model were completely consistent with the results of FISH test. One patient (F9) was diagnosed as polyploid by model reanalysis, who was diagnosed as a chimerism of polyploid and diploid karyotypes by FISH. One patient (F10) was diagnosed as polyploid by model reanalysis, who was diagnosed as a chimeric with two diploid karyotypes by FISH. Conclusions The analysis model can provide more intuitive results for the identification of chromosomal chimerism and polyploid abnormalities in NGS results. It can be used in the biological information computing platform to improve its computing power and improve the accuracy of chromosome copy number detection.