[1]张 倩),吴 东),肖 海),等.基因组拷贝数变异测序联合短串联重复序列分型在孕早期自然流产病因分析中的应用[J].郑州大学学报(医学版),2021,(01):81-85.
 ZHANG Qiansup>),WU Dongsup>),XIAO Haisup>),et al.Application of a combination of copy number variation sequencing and STR typing techniques in the pathogenesis analysis of early spontaneous abortion[J].JOURNAL OF ZHENGZHOU UNIVERSITY(MEDICAL SCIENCES),2021,(01):81-85.
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基因组拷贝数变异测序联合短串联重复序列分型在孕早期自然流产病因分析中的应用()
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《郑州大学学报(医学版)》[ISSN:1671-6825/CN:41-1340/R]

卷:
期数:
2021年01期
页码:
81-85
栏目:
应用研究
出版日期:
2021-01-20

文章信息/Info

Title:
Application of a combination of copy number variation sequencing and STR typing techniques in the pathogenesis analysis of early spontaneous abortion
作者:
张 倩123) 吴 东123) 肖 海123) 李新蕊123) 崔 彬3) 张梦汀123) 张晓梅123) 侯巧芳123) 廖世秀123)
1)河南省人民医院医学遗传研究所 郑州 450003 2)河南省遗传性疾病功能基因组重点实验室 郑州 450003 3)郑州大学人民医院 郑州 450003
Author(s):
ZHANG Qian<sup>123) WU Dong<sup>123) XIAO Hai<sup>123) LI Xinrui<sup>123) CUI Bin3) ZHANG Mengting<sup>123) ZHANG Xiaomei<sup>123) HOU Qiaofang<sup>123) LIAO Shixiu123)
1)Henan Provincial Key Medical Laboratory of Genetics, Institute of Medical Genetics, Henan Provincial People's Hospital, Zhengzhou 4500032)Henan Provincial Key Laboratory of Genetic Diseases and Functional Genomics, Zhengzhou 4500033)People's Hospital of Zhengzhou University, Zhengzhou 450003
关键词:
拷贝数变异测序 短串联重复序列分型 早期自然流产
Keywords:
copy number variation sequencing STR typing early spontaneous abortion
分类号:
R715.5
摘要:
目的:探讨基因组拷贝数变异测序(CNV-Seq)技术联合短串联重复序列(STR)分型对早期自然流产查因的可行性和应用价值,为早期自然流产发生后的再次妊娠提供遗传学的风险评估。方法:选取河南省人民医院医学遗传研究所收集到的545例早期自然流产组织,使用基于高通量测序技术的CNV-Seq平台和基于荧光标记复合扩增的STR分型技术对染色体异常进行联合分析,并使用单核苷酸多态性芯片(SNP-array)对部分特殊异常结果进行验证。结果:CNV-Seq技术联合STR分型成功检测了545例样本,总阳性检出率为55.1%,包括染色体数目异常271例,结构异常23例,单亲二倍体6例。其中联合STR分型额外检出三倍体、单亲二倍体样本及其他染色体数目异常39例。SNP-array平台对6例单亲二倍体样本的验证结果与STR分型检出结果一致。结论:CNV-Seq技术联合STR分型检测可提高染色体异常的阳性检出率,为更准确分析早期自然流产的原因提供依据。
Abstract:
Aim:To explore the application of copy number variation sequencing(CNV-Seq)combined with short trandem repeat(STR)typing in early spontaneous abortion examination, and to provide risk assessment from a genetic perspective for the second pregnancy after early spontaneous abortion.Methods:Samples from 545 cases of early spontaneous abortion tissue were used to analyze abnormalities of chromosomes by using CNV-Seq which based on next generation sequencing and STR typing which based on fluorescence labeled multiplex amplification.SNP-array was used to verify part of special abnormal results.Results:The combined use of CNV-Seq and STR typing techniques successfully examined 545 samples, and the total positive detection rate was 55.1%.Out of the positive cases, 271 had abnormalities in the number of chromosomes, 23 cases in structures, and 6 cases were uniparental disomy.STR typing additionally detected 39 cases of triploid,uniparental disomy samples or abnormalities in the number of chromosomes.The verification results of SNP-array on 6 uniparental disomy samples were consistent with the results of STR typing.Conclusion:The CNV-Seq in combination with STR typing can improve the positive detection rate and provide more accurate analysis of possible causes of early spontaneous abortion.

参考文献/References:

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备注/Memo

备注/Memo:
【基金项目】河南省医学科技攻关项目(2018020393)
【作者简介】廖世秀,通信作者,女,1966年10月,博士,主任医师,教授,研究方向:出生缺陷/遗传病的产前诊断及发病机制、复发性流产(习惯性流产)的病因研究与防治,E-mail:yichuansuolsx@126.com
更新日期/Last Update: 2021-02-15