الفهرس 
Molecular characterization of primary hyperoxaluria
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Abstract
Background: Primary hyperoxaluria (PH); an autosomal recessive disorder, is one of the main causes of end stage renal disease. It is more prevalent in areas with high rate of consanguineous marriage. PH1 is the most common and most severe form of PH. It is caused by decreased activity of hepatic AGT enzyme, which is controlled by AGXT1 gene. AGXT1 gene is composed of 11 exons. There are more than 190 mutations in AGXT1 gene associated with PH1. The aim of this work is to identify genetic variants present in exons 1 and exon 7 of AGXT1 gene in PH1 Egyptian patients and to correlate the genotype with phenotype in those patients. Subjects and methods: This study was conducted on 22 clinically suspected PH1 patients recruited from Abo El Rish Children Hospital Nephrology And Dialysis Unit, hospital wards and outpatients clinic. Genetic analysis was done by Sanger sequencing Results: Our study revealed 4 variants in exon 1 (rs34116584, rs180177201, rs121908523 and rs115014558) in 10 cases and 2 variantsin exon 7 (rs121908525 and rs112673831) in 2 of them. Conclusion: Our study detected different variants in exons 1 and 7 of AGXT1 gene with different associations with PH1 in Egyptian patients. Sequencing is the best method of detection of those variants