An intronic duplication in the alanine: glyoxylate aminotransferase gene facilitates identification of mutations in compound heterozygote patients with primary hyperoxaluria type 1 |
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Authors: | P Edward Purdue Michael J Lumb Jennifer Allsop Christopher J Danpure |
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Institution: | (1) Biochemical Genetics Research Group, MRC Clinical Research Centre, Watford Road, HA1 3UJ Harrow, Middlesex, UK |
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Abstract: | Summary 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. |
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