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요약정보
基因拷贝数变异与自然流产的关联性分析 / Association analysis of gene copy number variation and spontaneous abortion
Resource Type
Academic Journal
Authors
麦富巨
;
刘凤芝
;
赵卓姝
;
MAI Fu-ju
;
LIU Feng-zhi
;
ZHAO Zhuo-shu
Source
首都食品与医药 / Capital Medicine
. 27(20):125-127
Subject
自然流产
流产物
测序技术
拷贝数变异
Language
Chinese
ISSN
1005-8257
Online Access
Find it @ DONGA
초록
目的 探讨应用高通量测序技术(NGS)检测的基因拷贝数变异与胚胎自然停育的关联性分析.方法 回顾分析从2019年1月~12月在顺德区妇幼保健院就诊的186例自然流产的患者病历资料并将其作为研究对象,收集患者的流产组织,包括绒毛或胚胎组织,提取DNA,采用NGS对其基因组进行信息测序,分析染色体拷贝数变异(CNVs)的类型及检出率情况.结果 186例样本中共检测出127例染色体异常,其中染色体非整倍体异常83例;CNV-seq分析拷贝数变异62例,其中5例为致病性变异,4例为正常或多态,53例为致病意义不明.结论 NGS对染色体异常改变表现得更加灵敏,更方便于查明自然流产的遗传学病因,为再次妊娠提供更全面的遗传咨询.
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