Human beta-galactosidase gene mutations in morquio B disease.
Three different beta-galactosidase gene mutations--a 273Trp----Leu (mutation F) in both families, 482Arg----His (mutation G) in one family, and 509Trp----Cys (mutation H) in the other family--were identified in three patients with Morquio B disease who were from two unrelated families. Restriction-site analysis using StuI, Nsp(7524)I or RsaI confirmed these mutations. In human fibroblasts, mutation F expressed as much as 8% of the normal allele's enzyme activity, but the other mutations expressed no detectable enzyme activity. We conclude that the unique clinical manifestations are specifically associated with mutation F, a common two-base substitution, in this disease.
Department of Clinical Genetics, Tokyo Metropolitan Institute of Medicine Science, Japan.
A
A
Oshima
K
K
Yoshida
M
M
Shimmoto
Y
Y
Fukuhara
H
H
Sakuraba
Y
Y
Suzuki
D000595:Amino Acid Sequence; D015152:Blotting, Northern; D003001:Cloning, Molecular; D004252:DNA Mutational Analysis; D005838:Genotype; D006801:Humans; D008969:Molecular Sequence Data; D009085:Mucopolysaccharidosis IV / Q000201:enzymology / Q000235:genetics*; D009154:Mutation; D001616:beta-Galactosidase / Q000235:genetics*
D001616:beta-Galactosidase