Marquis-Nicholson R, Glamuzina E, Prosser D, Wilson C, Love D R
Diagnostic Genetics, LabPLUS, Auckland City Hospital, Auckland, New Zealand.
Genet Mol Res. 2010 Aug 3;9(3):1483-9. doi: 10.4238/vol9-3gmr834.
We developed a mutation-screening protocol for the ASS1 gene in order to guide clinical management of neonates with elevated citrulline detected during routine newborn screening. An exon-based amplification and sequencing method was designed and successfully applied to patients to identify disease-associated mutations. The sequencing-based method was applied to three patients with mild or asymptomatic clinical courses. Identification of a homozygous mutation in these patients, c.787G>A (p.Val263Met), led to the development of a tetra-primer ARMS-PCR method that successfully detected the mutation in DNA extracted from blood or from Guthrie card spots.
我们开发了一种用于ASS1基因的突变筛查方案，以指导对在常规新生儿筛查中检测到瓜氨酸升高的新生儿进行临床管理。设计了一种基于外显子的扩增和测序方法，并成功应用于患者以鉴定疾病相关突变。基于测序的方法应用于三名临床病程较轻或无症状的患者。在这些患者中鉴定出纯合突变c.787G>A（p.Val263Met），从而开发出一种四引物ARMS-PCR方法，该方法成功检测到从血液或Guthrie卡片斑点中提取的DNA中的突变。
