Molecular analysis of hyperoxaluria type 1 in Italian patients reveals eight new mutations in the alanine: glyoxylate aminotransferase gene.
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.
Pirulli
D
D
Cattedra e Servizio de Genetica Medica, IRCSS Burlo Garofolo e Università di Trieste, Italy.
Puzzer
D
D
Ferri
L
L
Crovella
S
S
Amoroso
A
A
Ferrettini
C
C
Marangella
M
M
Mazzola
G
G
Florian
F
F
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
D000637:Transaminases; C023067:glyoxylate aminotransferase; D000409:Alanine