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比较基因组杂交技术的改进及其在产前诊断中的应用 被引量：2

Improvement and application of comparative genomic hybridization in prenatal diagnosis
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摘要 目的改进比较基因组杂交(CGH)技术,为产前诊断胎儿染色体异常提供有益手段。方法选取唐氏综合征筛查结果为高风险、细胞遗传学结果异常的孕妇5例,因胎儿畸形、死胎引产的孕妇11例。缺口平移法标记待测DNA和对照DNA,同时将待测DNA和对照DNA的荧光颜色互换,即进行荧光互换CGH,根据绿红两种信号的比值制作CGH拷贝数核型模式图,以1.0表示平衡比例,荧光强度比(FR)阈值定为1.25和0.75。以细胞遗传学检查检验CGH分析的敏感性和可靠性。结果16例孕妇胎儿样本均成功利用CGH方法进行了分析、确认,结果与细胞遗传学分析一致;1例细胞遗传学诊断为4号染色体的长臂远端部分缺失病例,CGH为4号染色体q32-qter缺失。CGH分析在荧光互换前后FR曲线并不完全互补。结论CGH技术经荧光互换等改进能最大程度的排除在实验过程中可能产生的误差,可作为产前诊断中传统核型分析的有益和必要补充。 Objective To create a useful comparative genomic hybridization(CGH) for prenatal diagnosis.Methods 5 pregnancies with abnormal cytogenetic results and 11 pregnancies with malformed infants were enrolled in this study.Sample DNA and control DNA were labeled with Spectrum Green dUTP and SpectrumRed dUTP respectively using the nick translation kit.Simultaneously,fluorochrome-exchanged CGH was designed.Sample DNA was labeled with SpectrumRed dUTP and genomic DNA was labeled with SpectrumGreen.The karyotyping wa...
作者 孟金来 王玉 王谢桐 陈子江
机构地区 山东大学附属省立医院妇产科 山东医学高等专科学校
出处 《山东大学学报（医学版）》 CAS 北大核心 2009年第7期89-92,共4页 Journal of Shandong University:Health Sciences
基金 国家自然科学基金资助课题(30470703)
关键词 比较基因组杂交 染色体 产前诊断 Comparative genomic hybridization Chromosomal Prenatal diagnosis
分类号 R714.5 [医药卫生—妇产科学]
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同被引文献25

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  • 2于萍,王和,袁粒星.产前诊断技术及其临床应用[J].中国优生与遗传杂志,2007,15(4):14-17. 被引量：37
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山东大学学报（医学版）
2009年 第7期

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