title: Molecular analysis of hyperoxaluria type 1 in Italian patients reveals eight new mutations in the alanine: glyoxylate aminotransferase gene.
abstract: Systematic screening using the SSCP technique followed by sequencing of bands with abnormal mobility derived from the AGXT exons of 15 unrelated Italian patients with primary hyperoxaluria type 1 (PH1) allowed us to characterize both the mutant alleles in each individual. Eight new mutations were identified: C155del, C156ins, G244T, C252T, GAG408ins, G468A, G588A and G1098del. This study demonstrates both the effectiveness of the screening strategy chosen to identify all the mutant alleles and the high degree of allelic heterogeneity in PH1.
authors.affiliation: Cattedra e Servizio de Genetica Medica, IRCSS Burlo Garofolo e Università di Trieste, Italy.
authors.forename: D
authors.initials: D
authors.lastname: Pirulli
authors.forename: D
authors.initials: D
authors.lastname: Puzzer
authors.forename: L
authors.initials: L
authors.lastname: Ferri
authors.forename: S
authors.initials: S
authors.lastname: Crovella
authors.forename: A
authors.initials: A
authors.lastname: Amoroso
authors.forename: C
authors.initials: C
authors.lastname: Ferrettini
authors.forename: M
authors.initials: M
authors.lastname: Marangella
authors.forename: G
authors.initials: G
authors.lastname: Mazzola
authors.forename: F
authors.initials: F
authors.lastname: Florian
mesh_terms: D000409:Alanine / Q000235:genetics*; D001483:Base Sequence; D005091:Exons; D017353:Gene Deletion; D006801:Humans; D006959:Hyperoxaluria / Q000235:genetics*; D007558:Italy; D008969:Molecular Sequence Data; D009154:Mutation; D017354:Point Mutation; D011110:Polymorphism, Genetic; D018807:Polymorphism, Single-Stranded Conformational; D017422:Sequence Analysis, DNA; D000637:Transaminases / Q000235:genetics* / Q000378:metabolism
chemical_list: D000637:Transaminases; C023067:glyoxylate aminotransferase; D000409:Alanine