Clin Chem:基于匹配母子细胞系酶解的无创性产前检测研制高仿生学质量控制材料

2019-08-03 不详 MedSci原创

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基于游离DNA (cfDNA)的无创产前检测(NIPT)广泛应用于临床检测。然而,目前仍缺乏具有与临床样品相同特性并适用于多种方法的仿生控制材料,因此仍然无法满足分析开发、内部质量控制和熟练程度测试的需求。

本研究研制了一套双酶解NIPT质控材料(DENQCMs),包括基于DNA裂解因子消化(D-cfDNA)的模拟人血浆和母细胞系衍生cfDNA混合物,以及基于微球菌核酸酶消化(M-cfDNA)的匹配子细胞系衍生cfDNA。材料中包括211813个三聚体呈阳性的连续稀释样品。为了评估仿生学特性,采用随机大规模并行测序(MPS)、靶向MPS和成像单DNA分子方法对DENQCMs进行分析,并将估计胎儿分数(FFs)与预期的FFs进行比较。对cfDNA片段进行全基因组分析,以确定其生物学特性。

对于FF> 5%的样品,通过4次常规NIPT测定正确检测每种DENQCM的遗传状态。基于染色体Y和基于单核苷酸多态性的FF估计与预期的FF线性相关。 MPS结果显示DENQCM与母体血浆之间的质量度量的一致性较好,例如cfDNAGC含量和独特的读取比率。

研究表明,DENQCMs可适用于不同平台。本研究建议DENQCMs作为一种生产匹配母体和胎儿cfDNA的方法,将适用于NIPT质量控制材料的制备。

原始出处:

Rui Zhang, Jiansheng Ding, Generation of Highly Biomimetic Quality Control Materials for Noninvasive Prenatal Testing Based on Enzymatic Digestion of Matched MotherChild Cell Lines

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    2019-08-05 qilu_qi
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