Human beta-galactosidase gene mutations in morquio B disease.

Article Details

Citation

Oshima A, Yoshida K, Shimmoto M, Fukuhara Y, Sakuraba H, Suzuki Y

Human beta-galactosidase gene mutations in morquio B disease.

Am J Hum Genet. 1991 Nov;49(5):1091-3.

PubMed ID
1928092 [ View in PubMed
]
Abstract

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.

DrugBank Data that Cites this Article

Polypeptides
NameUniProt ID
Beta-galactosidaseP16278Details