基因芯片技术在早期自然流产遗传学诊断中的应用研究

The application of gene chip technology in the genetic diagnosis of early spontaneous abortion

目的探讨基因芯片技术在早期自然流产病因诊断中的应用研究。方法选择120例早期自然流产患者,取绒毛,提取DNA,进行基因芯片检测。结果 120例流产组织基因芯片检测均成功,其结果分为染色体数目异常和结构异常,结果正常53例,异常64例,检出异常率53.3%,临床意义不明2.5%。在64例染色体异常中,染色体数目异常59例,占92.2%,其中三倍体4例。染色体结构异常共5例,明确致病,临床意义不明3例。结论基因芯片技术可作为一项快速、准确的早期自然流产病因诊断方法。

Objective:To explore the application of gene chip technology in the diagnosis of early spontaneous abortion.Methods:A cohort of 120 patients with early spontaneous abortion in Shandong Maternal and Child Health hospital was enrolled in this study.Gene chip technology was performed on genomic DNA extracted from chorionic villi.Results:All the 120 cases of abortion tissue gene microarray were successful,and the results were divided into chromosome number abnormality and structural abnormality,and the results were normal 53 cases,abnormal 64 cases,and the detection rate was 53.3%.In the 64 cases of chromosomal abnormalities,59 cases were abnormal,accounting for 92.2%and polyploidy in 4 samples,structural abnormalities in 5 samples and Clinical significance was unclear in 3 cases.Conclusions:Gene chip technology can be used as a rapid and accurate diagnosis method of early natural abortion.