Abstract
An improved method has been developed for the detection of heterozygotes for feline and human mucopolysaccharidosis VI. Arylsulfatase-A and -B activities were assayed in leukocyte extracts following separation of the enzymes by batch chromatography on DEAE cellulose. Determination of arylsulfatase-B specific activities did not permit accurate heterozygote identification, whereas the arylsulfatase-A to arylsulfatase-B activity ratio discriminated all 16 obligate heterozygotes for the feline and human disorders.
Publication types
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Animals
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Cat Diseases / genetics*
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Cats
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Cerebroside-Sulfatase / metabolism
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Chondro-4-Sulfatase / deficiency*
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Chondro-4-Sulfatase / metabolism
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Genetic Carrier Screening / methods*
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Humans
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Mucopolysaccharidoses / genetics*
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Mucopolysaccharidosis VI / enzymology
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Mucopolysaccharidosis VI / genetics*
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Mucopolysaccharidosis VI / veterinary
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Sulfatases / deficiency*
Substances
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Sulfatases
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Cerebroside-Sulfatase
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Chondro-4-Sulfatase