新生儿基因筛查——在二代测序时代桑格测序仍有一席之地。
Newborn Genetic Screening-Still a Role for Sanger Sequencing in the Era of NGS.
作者信息
Hogner Silje, Lundman Emma, Strand Janne, Ytre-Arne Mari Eknes, Tangeraas Trine, Stray-Pedersen Asbjørg
机构信息
Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway.
出版信息
Int J Neonatal Screen. 2023 Dec 7;9(4):67. doi: 10.3390/ijns9040067.
Abstract
In the Norwegian newborn screening (NBS) program, genetic testing has been implemented as a second or third tier method for the majority of NBS disorders, significantly increasing positive predictive value (PPV). DNA is extracted from dried blood spot (DBS) filter cards. For monogenic disorders caused by variants in one single gene or a few genes only, Sanger sequencing has been shown to be the most time- and cost-efficient method to use. Here, we present the Sanger sequencing method, including primer sequences and the genetic test algorithms, currently used in the Norwegian newborn screening program.
摘要
在挪威新生儿筛查（NBS）项目中，基因检测已被用作大多数NBS疾病的二线或三线检测方法，显著提高了阳性预测值（PPV）。DNA从干血斑（DBS）滤纸片中提取。对于仅由一个或几个基因中的变异引起的单基因疾病，桑格测序已被证明是最省时且最具成本效益的检测方法。在此，我们介绍了目前挪威新生儿筛查项目中使用的桑格测序方法，包括引物序列和基因检测算法。
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