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] Gao Ming;Pang Hong;Zhao Yanhui;Niu Jumin;Liu Yansong;Cheng Zhaoxia;Feng Xiaojing;Liu Liying(Department of Heredity,Shenyang Women's and Children's Hospital,Shenyang 110001,China;Department of Gynaecology,Shenyang Women's and Cluldren's Hospital,Shenyang 110001,Chirm;Assisted Reproduction Clinic,Shenyang Women's and Children's Hospital,Shenyang 110001,China;Obstetric Clinic,Shenyang Women's and Children's Hospital,Shenyang 110001,China;Reproductive Centery Shenyang Women's and Children’s Hospital,Shenyang 110001,China)

机构地区：[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

出　　处：《中国医药》2020年第9期1469-1472,共4页China Medicine

基　　金：辽宁省自然科学基金(20170540836)。

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.

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 

分 类 号：R394[医药卫生—医学遗传学]