基因芯片技术对流产胚胎组织遗传学诊断的研究

发布时间：2018-12-17 21:37

【摘要】：目的:探讨基因芯片技术在早期自然流产胚胎组织遗传学诊断中的临床应用价值。方法:选取第四军医大学第一附属医院自然流产就诊的孕妇58例,获取流产胚胎组织,提取组织DNA,进行基因芯片检测。结果:基因芯片检测的成功率为100.0%,检测结果正常14例,异常44例,检出率为75.9%(44/58)。检出的异常结果中染色体数目异常共26例,包括三倍体4例,非整倍体22例;结构异常共18例,包括微缺失和微重复12例,多条染色体异常及部分单亲二倍体(UPD)6例。结论:基因芯片技术能准确检出染色体异常,可以建立一种非培养、快速、准确的流产胚胎染色体异常的检测方法,在流产组织遗传学诊断中具有较强的临床应用价值。
[Abstract]:Objective: to evaluate the clinical value of gene chip technique in the diagnosis of early spontaneous abortion embryo tissue genetics. Methods: 58 pregnant women with spontaneous abortion in the first affiliated Hospital of the fourth military Medical University were selected to obtain abortive embryo tissue and DNA, was extracted for gene chip detection. Results: the success rate of gene chip detection was 100.0%. The results were normal in 14 cases and abnormal in 44 cases. The detection rate was 75.9% (44 / 58). There were 26 cases of abnormal chromosome number, including 4 cases of triploid, 22 cases of aneuploidy, 18 cases of structural abnormality, including 12 cases of microdeletion and microduplication, 6 cases of polychromosome abnormality and partial single parent diploid (UPD). Conclusion: gene chip technique can accurately detect chromosomal abnormalities and can establish a rapid and accurate method for the detection of chromosomal abnormalities in abortive embryos. It has a strong clinical application value in the diagnosis of miscarriage tissue genetics.
【作者单位】：第四军医大学第一附属医院;
【分类号】：R714.21

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