Sequencing

Citrullinemia type I: molecular screening of the ASS1 gene by exonic sequencing and targeted mutation analysis

R. Marquis-Nicholson, Glamuzina, E., Prosser, D., Wilson, C., and Love, D. R., Citrullinemia type I: molecular screening of the ASS1 gene by exonic sequencing and targeted mutation analysis, vol. 9. pp. 1483-1489, 2010.

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.

A/G Gln20Arg (exon 1) and G/A Val156Met (exon 5) polymorphisms of the human orosomucoid 1 gene in Mexico

L. García-Ortiz, Vargas-Alarcón, G., Fragoso, J. M., Granados, J., L. Noriega, M., A. Pérez, N., E. Reyes, H., Zenteno-Ruiz, J. C., and Martínez-Cordero, E., A/G Gln20Arg (exon 1) and G/A Val156Met (exon 5) polymorphisms of the human orosomucoid 1 gene in Mexico, vol. 7, pp. 7-15, 2008.

The human orosomucoid 1 gene (ORM1) codes an alpha-1-acid glycoprotein that has been classified as an acute-phase reactive protein, and a major drug-binding serum component, as well as an immunomodulatory protein with genetic polymorphisms. Evaluation of ORM variation through isoelectric focusing and immunobloting has revealed a world-wide distribution of the ORM1 F and ORM1 S alleles.

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