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Research Article

胎儿免疫胎儿DNA和胎儿宫颈癌非侵袭性产前筛查β-地中海贫血的诊断价值

卷 19, 期 2, 2019

页: [105 - 111] 页: 7

弟呕挨: 10.2174/1566524019666190226124135

价格: $65

摘要

背景：β地中海贫血是常染色体隐性遗传的常见疾病。最产前的诊断方法是具有流产风险的侵入性技术。现在，非侵入性方法将逐渐成为这些侵入性技术的替代方法。 目的：本研究的目的是评估和比较两种非侵入性胎儿地中海贫血诊断方法在一个采样社区中使用无细胞胎儿DNA（cff-DNA）和有核红细胞（NRBC）的诊断价值。 方法：从32名孕妇（平均胎龄= 11周）的两只k3EDTA管中取10ml血液，其本人及其丈夫患有轻度地中海贫血。一根管用于富集NRBC，另一根用于cff-DNA提取。通过MACS方法和免疫组织化学分离NRBCs;通过多重置换扩增（MDA）程序扩增染色细胞的基因组。这些产物用作b-珠蛋白区段PCR中的模板。通过THP方法提取cff-DNA，从琼脂糖凝胶中回收300bp区域作为胎儿DNA。这些DNA在触底PCR中用作模板以扩增b-珠蛋白基因。对扩增的b-珠蛋白区段进行测序，并将结果与CVS结果进行比较。 结果：数据显示，NRBC诊断地中海贫血的敏感性和特异性分别为100％和92％，cff-DNA诊断地中海贫血的敏感性和特异性分别为100％和84％。 结论：这些灵敏度高的方法可作为筛选试验，但由于其特异性低于CVS，因此不能作为诊断试验。

关键词: 产前诊断，β-地中海贫血，筛查，NRBC，Cff-DNA，非侵入性。

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