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[1]李 婵,张翠霞,李晓彦,等.新一代测序技术检测稽留流产绒毛染色体非整倍体及拷贝数变异的研究[J].宁夏医科大学学报,2018,(01):29-32,50.[doi:10.16050/j.cnki.issn1674-6309.2018.01.007]
 LI Chan,ZHANG Cuixia,LI Xiaoyan,et al.Detection of Chromosome Aneuploidy and Copy Number Variations in Missed Abortion Chorionic Villi Using NGS Technology[J].Ningxia Medical University,2018,(01):29-32,50.[doi:10.16050/j.cnki.issn1674-6309.2018.01.007]
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新一代测序技术检测稽留流产绒毛染色体非整倍体及拷贝数变异的研究(PDF)
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《宁夏医科大学学报》[ISSN:1005-8486/CN:64-1029/R]

卷:
期数:
2018年01期
页码:
29-32,50
栏目:
论 著
出版日期:
2018-01-30

文章信息/Info

Title:
Detection of Chromosome Aneuploidy and Copy Number Variations in Missed Abortion Chorionic Villi Using NGS Technology
作者:
李 婵1 张翠霞2 李晓彦1 朱小燕1 潘丽华2
(1.宁夏医科大学,银川 750004; 2.宁夏医科大学总医院妇产科,银川 750004)
Author(s):
LI Chan1 ZHANG Cuixia2 LI Xiaoyan1 ZHU Xiaoyan1 PAN Lihua2
(1. Ningxia Medical University,Yinchuan 750004; 2. Deparment of Gynaecoloyg and Obstetrics,the General Hospital of Ningxia Medical University,Yinchuan 750004)
关键词:
新一代测序技术稽留流产非整倍体拷贝数变异
Keywords:
new-generation sequencingmissed abortionaneuploidycopy number variations
分类号:
R596.1
DOI:
10.16050/j.cnki.issn1674-6309.2018.01.007
文献标志码:
A
摘要:
目的 应用新一代测序(new-generation sequencing,NGS)技术检测稽留流产绒毛染色体非整倍体及拷贝数变异(copy number variations,CNVs),分析其与稽留流产的相关性。方法 应用NGS技术进行染色体非整倍体和CNVs检测的方法学验证后,于2015年收集83例稽留流产绒毛组织,应用NGS技术完成绒毛染色体非整倍体及CNVs的检测,并对检测结果进行分析。结果 83例稽留流产组织中异常核型78例,异常率93.98%,其中非整倍体44例(56.41%),以16、22、21、X、15号染色体高发;拷贝数变异34例(43.59%)。根据孕妇年龄将样本分为高龄组(年龄≥35岁)和低龄组(年龄<35岁),高龄组绒毛染色体为非整倍体的检出率(78.8%)大于低龄组(36%)(P<0.05)。结论 NGS技术较常规染色体核型分析在拷贝数变异等染色体细微结构异常检测方面显示更有临床指导意义的精确性。
Abstract:
Objective Using new-generation sequencing(NGS) technology to detect the chromosome aneuploidy and copy number variations(CNVs) in missed abortion chorionic villi, and analyzing its correlation with missed abortion. Methods We developed a NGS-based method to detect aneuploidy and CNVs using low-coverage whole-genome sequencing and PSCC algorithm. To validate the method,a total of 20 cases of spontaneously abortion chorionic villi were tested by the NGS method, and compared to results of G-banding. And then, 83 missed abortion chorionic villi were collected in 2015. NGS technology were used to detect the chromosome aneuploidies and CNVs, and the test results were analyzed. Results In clinical application of the NGS-based method,chromosome abnormalities were found in 78 cases(abnormal rate was 93.98%),in which 44 cases with aneuploidy(56.41%) and 34 cases with CNVs(43.59%) were identified.Trisomy 16,22,21,X,15 were the most common aneuploidies. The frequency of aneuploidy in women aged ≥35 years old(78.8%),was higher than that in women aged <35 yesrs old(36%)(P<0.05),the difference was statistically significant. Conclusion NGS technology is more sensitive than traditional karyotype analysis in detection the chromosomal karyotypes of the variation of copy-number, and it has clinical significance of guidance.

参考文献/References:


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备注/Memo

备注/Memo:
收稿日期:2017-03-08
作者简介:李婵,女,在读硕士研究生,研究方向为产前诊断。
通信作者:潘丽华,教授,硕士研究生导师。 E-mail:panlihua66@126.com
更新日期/Last Update: 2018-01-30