新生儿基因筛查--桑格测序在 NGS 时代仍有用武之地

IF 4 Q1 GENETICS & HEREDITY

International Journal of Neonatal Screening Pub Date : 2023-12-07 DOI:10.3390/ijns9040067

Silje Hogner, E. Lundman, J. Strand, M. Ytre-Arne, T. Tangeraas, A. Stray-Pedersen

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引用次数: 0

摘要

在挪威新生儿筛查(NBS)项目中，基因检测已被作为大多数NBS疾病的第二或第三级方法实施，显著提高了阳性预测值(PPV)。DNA是从干血斑(DBS)过滤卡中提取的。对于由单个基因或少数基因变异引起的单基因疾病，Sanger测序已被证明是最省时和最具成本效益的方法。在这里，我们提出了Sanger测序方法，包括引物序列和基因检测算法，目前用于挪威新生儿筛查计划。

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Newborn Genetic Screening—Still a Role for Sanger Sequencing in the Era of NGS

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.

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来源期刊

International Journal of Neonatal Screening Medicine-Pediatrics, Perinatology and Child Health

CiteScore

6.70

自引率

20.00%

发文量

审稿时长

11 weeks