Mutation-based diagnostic testing for primary hyperoxaluria type 1: Survey of results
| Autor: | Hilary Vallance, Qun Lian, Marion B. Coulter-Mackie, Derek A. Applegarth, Paula J. Waters, Jennifer R. Toone |
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| Rok vydání: | 2008 |
| Předmět: |
Genetics
Polymorphism Genetic British Columbia DNA Mutational Analysis Clinical Biochemistry Diagnostic test General Medicine Biology medicine.disease Health Surveys DNA sequencing Primary hyperoxaluria chemistry.chemical_compound Gene Frequency Molecular Diagnostic Techniques chemistry Hyperoxaluria Primary Mutation Mutation testing medicine Humans Allele frequency Gene Glyoxylate aminotransferase DNA |
| Zdroj: | Clinical Biochemistry. 41:598-602 |
| ISSN: | 0009-9120 |
| Popis: | Objectives To test for specific mutations in the alanine:glyoxylate aminotransferase (AGT) gene, in order to diagnose primary hyperoxaluria type 1 (PH1). Design and methods Samples of liver and/or DNA from 81 patients were submitted to our laboratory for diagnostic testing for PH1. Using a panel of selected mutations, DNA was examined in 64 cases, of which 36 had the diagnosis of PH1 confirmed by liver AGT assay. DNA sequencing was employed if mutation testing revealed only one mutation. Results Identification of 100% of the mutations in the AGT-confirmed samples led to the development of a focused testing panel currently involving 4 common mutations, 7 mutations recurring at lower frequency and 5 with apparent ethnic associations. Conclusions This mutation panel alone would have identified the two causative mutations in 64% of the PH1 samples. |
| Databáze: | OpenAIRE |
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