PMID: 8592623Jan 1, 1995Paper

Polymorphisms in the alanine:glyoxylate aminotransferase gene and their application to the prenatal diagnosis of primary hyperoxaluria type 1

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association
G RumsbyA Geraerts

Abstract

Primary hyperoxaluria type 1 (PH1) is caused by a deficiency of the hepatic alanine:glyoxylate aminotransferase enzyme encoded by the AGXT gene on chromosome 2. Prenatal diagnosis of PH1 either by measurement of hepatic enzyme activity or DNA analysis provides a valuable contribution to the management of pregnancies at risk for the severe infantile form of this disease. DNA analysis is preferred because it can be performed earlier in pregnancy and eliminates difficulties encountered in measurement of tissue enzyme activity, particularly those related to sample instability. We have assessed the clinical value of two polymorphisms located in introns 1 and 4 of the AGXT gene as linkage markers for the prenatal diagnosis of PH1 in 12 families. Eight of the twelve families were informative when either one or a combination of the two polymorphisms was used and prenatal diagnosis has been performed in two of these. The remaining four families were only partially informative. Five additional linkage markers on chromosome 2 have been identified which are co-inherited with the AGXT gene. Assays to detect these markers are currently under development.

Citations

Jul 1, 1996·Prenatal Diagnosis·C J Danpure, G Rumsby
Apr 9, 2005·Journal of Paediatrics and Child Health·Arun GangakhedkarLydia A Pitcher
Apr 23, 2009·International Journal of Stroke : Official Journal of the International Stroke Society·Mohammad SaadatniaGilda Kinani Mehr
Sep 9, 2009·Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·Basak DoganavsargilGulcin Basdemir
Aug 19, 2003·Pharmacotherapy·Renee F RobinsonDonald L Batisky
Feb 6, 1998·The Australian and New Zealand Journal of Surgery·B D Draganic, D A Clark

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