An intronic duplication in the alanine: glyoxylate aminotransferase gene facilitates identification of mutations in compound heterozygote patients with primary hyperoxaluria type 1

✍ Scribed by P. Edward Purdue; Michael J. Lumb; Jennifer Allsop; Christopher J. Danpure

• Publisher: Springer
• Year: 1991
• Tongue: English
• Weight: 349 KB
• Volume: 87
• Category: Article
• ISSN: 0340-6717
• DOI: 10.1007/bf00197154

✦ Synopsis

We report here the identification of a duplication within the first intron of the gene encoding human alanine:glyoxylate aminotransferase (AGT); this duplication is closely linked to two point mutations associated with peroxisome-to-mitochondrion mistargeting of AGT in primary hyperoxaluria type 1 (PH1) patients. Polymerase chain reaction amplification of regions of the AGT gene including the insertion site from individuals heterozygous for this duplication, produces allele-specific fragments of different sizes. We have taken advantage of this to identify a nonsense mutation within a non-expressed allele of a compound heterozygote PH1 patient with mitochondrial AGT.