title: An intronic duplication in the alanine: glyoxylate aminotransferase gene facilitates identification of mutations in compound heterozygote patients with primary hyperoxaluria type 1.
abstract: 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.
authors.affiliation: Biochemical Genetics Research Group, MRC Clinical Research Centre, Harrow, Middlesex, UK.
authors.forename: P E
authors.initials: PE
authors.lastname: Purdue
authors.forename: M J
authors.initials: MJ
authors.lastname: Lumb
authors.forename: J
authors.initials: J
authors.lastname: Allsop
authors.forename: C J
authors.initials: CJ
authors.lastname: Danpure
mesh_terms: D000410:Alanine Transaminase / Q000235:genetics*; D001483:Base Sequence; D006579:Heterozygote; D006801:Humans; D006960:Hyperoxaluria, Primary / Q000235:genetics*; D007438:Introns; D008928:Mitochondria / Q000201:enzymology; D008969:Molecular Sequence Data; D005810:Multigene Family; D009154:Mutation; D016133:Polymerase Chain Reaction; D015183:Restriction Mapping; D000637:Transaminases
chemical_list: D000637:Transaminases; D000410:Alanine Transaminase; C019635:Alanine-glyoxylate transaminase