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Mucopolysaccharidosis III B: hybridization studies on fibroblasts from a mild case and fibroblasts from severe patients
Author(s) -
Ballabio Andrea,
Pallini Rita,
Natale Paola Di
Publication year - 1984
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1984.tb00484.x
Subject(s) - complementation , phenotype , fibroblast , mucopolysaccharidosis , heterokaryon , cell fusion , mutation , allele , medicine , microbiology and biotechnology , biology , pathology , cell , genetics , cell culture , gene , mutant
Cell fusion with polyethylene glycol (PEG) was performed on fibroblasts from a previously studied patient with a mild form of Sanfilippo B disease and altered residual enzyme activity and fibroblasts from several patients with the classical, severe form of the disease. No complementation was found in heterokaryons. This suggests that the mild phenotype in our patient can be ascribed to an allelic mutation.