A homozygous missense arginine to histidine substitution at position 482 of the beta-galactosidase in an Italian infantile GM1-gangliosidosis patient.
We have studied, by the polymerase chain reaction, the beta-galactosidase cDNA from several Italian patients with infantile GM1-gangliosidosis. One homozygote for a previously undiscovered G > A mutation at position 1479, causing an arginine to histidine change, was detected. The same mutation, in heterozygosis, was identified in 6 unrelated patients, but not in 100 normal chromosomes.
Mosna
G
G
Dipartimento di Genetica e di Biologia dei Microrganismi, Università di Milano, Italy.
Fattore
S
S
Tubiello
G
G
Brocca
S
S
Trubia
M
M
Gianazza
E
E
Gatti
R
R
Danesino
C
C
Minelli
A
A
Piantanida
M
M
D001120:Arginine / Q000235:genetics*; D001483:Base Sequence; D004252:DNA Mutational Analysis; D004277:DNA, Single-Stranded; D016537:Gangliosidosis, GM1 / Q000235:genetics*; D006639:Histidine / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007223:Infant; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012333:RNA, Messenger / Q000235:genetics; D001616:beta-Galactosidase / Q000235:genetics*
D004277:DNA, Single-Stranded; D012333:RNA, Messenger; D006639:Histidine; D001120:Arginine; D001616:beta-Galactosidase