R. Marquis-Nicholson, E. Glamuzina, D. Prosser, C. Wilson and D.R. Love
Published August 3, 2010
Genet. Mol. Res. 9 (3): 1483-1489 (2010)
DOI 10.4238/vol9-3gmr834
About the Authors
R. Marquis-Nicholson, E. Glamuzina, D. Prosser, C. Wilson and D.R. Love
Corresponding author:
D.R. Love
E-mail: donaldl@adhb.govt.nz
ABSTRACT
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.
Key words: ASS1 gene; Tetra-primer ARMS-PCR; Sequencing; Citrullinemia type I