An improved method for heterozygote identification in feline and human mucopolysaccharidosis VI, arylsulfatase-B deficiency.
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.
D000818:Animals; D002371:Cat Diseases / Q000235:genetics*; D002415:Cats; D002553:Cerebroside-Sulfatase / Q000378:metabolism; D002803:Chondro-4-Sulfatase / Q000172:deficiency* / Q000378:metabolism; D006580:Genetic Carrier Screening / Q000379:methods*; D006801:Humans; D009083:Mucopolysaccharidoses / Q000235:genetics*; D009087:Mucopolysaccharidosis VI / Q000201:enzymology / Q000235:genetics* / Q000662:veterinary; D013429:Sulfatases / Q000172:deficiency*
D013429:Sulfatases; D002553:Cerebroside-Sulfatase; D002803:Chondro-4-Sulfatase