【摘要】：目的:探討基因芯片技術(shù)在早期自然流產(chǎn)胚胎組織遺傳學(xué)診斷中的臨床應(yīng)用價(jià)值。方法:選取第四軍醫(yī)大學(xué)第一附屬醫(yī)院自然流產(chǎn)就診的孕婦58例,獲取流產(chǎn)胚胎組織,提取組織DNA,進(jìn)行基因芯片檢測(cè)。結(jié)果:基因芯片檢測(cè)的成功率為100.0%,檢測(cè)結(jié)果正常14例,異常44例,檢出率為75.9%(44/58)。檢出的異常結(jié)果中染色體數(shù)目異常共26例,包括三倍體4例,非整倍體22例;結(jié)構(gòu)異常共18例,包括微缺失和微重復(fù)12例,多條染色體異常及部分單親二倍體(UPD)6例。結(jié)論:基因芯片技術(shù)能準(zhǔn)確檢出染色體異常,可以建立一種非培養(yǎng)、快速、準(zhǔn)確的流產(chǎn)胚胎染色體異常的檢測(cè)方法,在流產(chǎn)組織遺傳學(xué)診斷中具有較強(qiáng)的臨床應(yīng)用價(jià)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.
【作者單位】： 第四軍醫(yī)大學(xué)第一附屬醫(yī)院;
【分類號(hào)】：R714.21

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