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  • Title: Molecular analysis of the AGXT gene in Syrian patients suspected with primary hyperoxaluria type 1.
    Author: Murad H, Alhalabi MB, Dabboul A, Alfakseh N, Nweder MS, Zghib Y, Wannous H.
    Journal: BMC Med Genomics; 2021 Jun 03; 14(1):146. PubMed ID: 34082749.
    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.
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