An improved method for heterozygote identification in feline and human mucopolysaccharidosis VI, arylsulfatase-B deficiency |
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Authors: | M M McGovern D T Vine M E Haskins R J Desnick |
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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. |
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