Dataset Information
Molecular analysis of the AGXT gene in Syrian patients suspected with primary hyperoxaluria type 1.
Ontology highlight
ABSTRACT: Background
Characterization of the molecular basis of primary hyperoxaluria type 1 (PH-1) in Syria has been accomplished through the analysis of 90 unrelated chromosomes from 45 Syrians patients with PH-1 from different regions.Methods
Alanine glyoxylate aminotransferase (AGXT) gene mutations have been analyzed by using molecular detection methods based on the direct DNA sequencing for all exons of the AGXT gene.Results
Seventeen pathogenic mutations were detected in our patients. Six mutations were novels. The three most frequent mutations were c.33_34insC (p.Lys12fs) in Exon 1, c.584 T < G; p.Met195Arg in exon 5 and c.1007 T > A (p.Val336Asp) in exon 10, with a frequency of 33.3%, 12.2%, and 11.1%, respectively.Conclusion
DNA sequencing used in this study can offer a useful method to investigate the mutations in Syrian PH-1 patients, and could offer an accurate tool for prenatal diagnosis and genetic counseling.
SUBMITTER: Murad H
PROVIDER: S-EPMC8176596 | biostudies-literature | 2021 Jun
REPOSITORIES: biostudies-literature
Publications
Molecular analysis of the AGXT gene in Syrian patients suspected with primary hyperoxaluria type 1.
BMC medical genomics 20210603 1
<h4>Background</h4>Characterization of the molecular basis of primary hyperoxaluria type 1 (PH-1) in Syria has been accomplished through the analysis of 90 unrelated chromosomes from 45 Syrians patients with PH-1 from different regions.<h4>Methods</h4>Alanine glyoxylate aminotransferase (AGXT) gene mutations have been analyzed by using molecular detection methods based on the direct DNA sequencing for all exons of the AGXT gene.<h4>Results</h4>Seventeen pathogenic mutations were detected in our ...[more]