Citrullinemia type I, classical variant. Identification of ASS-p~G390R (c.1168GA) mutation in families of a limited geographic area of Argentina: a possible population cluster
| Autor: | Raquel Dodelson de Kremer, Sandra L. Antonozzi, Mariko Shimohama, Celia J. Angaroni, Laura E. Laróvere, Miriam B. Bezard |
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| Rok vydání: | 2008 |
| Předmět: |
Male
Urea cycle disorder Genotype Clinical Biochemistry Argininosuccinate synthase Population Argentina Argininosuccinate Synthase Disease cluster medicine Humans Family education Gene Genetics education.field_of_study Citrullinemia biology Geography Infant Newborn General Medicine medicine.disease Pedigree Restriction enzyme Genetics Population Amino Acid Substitution Mutation (genetic algorithm) Mutation biology.protein Female |
| Zdroj: | Clinical biochemistry. 42(10-11) |
| ISSN: | 1873-2933 |
| Popis: | Objective Citrullinemia type I (CTLN1) is an urea cycle defect caused by mutations in the argininosuccinate synthetase gene. We report the first identification in Argentina of patients with CTLN1 in a limited geographic area. Design and methods Molecular analysis in patient/relatives included PCR, sequencing and restriction enzyme assay. Results The studied families showed the same mutation: ASS∼p.G390R, associated with the early-onset/severe phenotype. Conclusion We postulate a possible population cluster. A program to know the carrier frequency in that population is in progress. |
| Databáze: | OpenAIRE |
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