Arylsulfatase A: Relationship of genotype to variant electrophoretic properties |
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Authors: | David S Park Ronald D Poretz Michael H Ricketts Paul Manowitz |
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Institution: | (1) Department of Biochemistry and Microbiology, Rutgers University, 08903 New Brunswick, New Jersey;(2) Department of Psychiatry, University of Medicine and Dentistry of New Jersey—Robert Wood Johnson Medical School, 675 Hoes Lane, 08854 Piscataway, New Jersey;(3) Present address: Department of Pathology, Columbia University College of Physicians and Surgeons, 10032 New York, New York |
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Abstract: | Previous work has shown that specific electrophoretic variants of arylsulfatase A occur more frequently among alcoholic patients
than among psychiatric and normal controls. The present study sequenced the gene for two of these electrophoretic variants,
IIIa and IIIb. Both contain an A-to-G transition corresponding to substitution of Asn350 by Ser, with the resulting loss of anN -glycosylation site. The difference in electrophoretic mobility of their gene products is due to a mutation in the IIIb gene
resulting in the replacement of Arg496 by His. Evidence is presented that individuals possessing either of two other electrophoretic variants, Va and Vb, are heterozygous
for a normal ASA allele and either a IIIa or IIIb allele, respectively. Thus, the relationship between the phenotype of the
electrophoretic banding patterns, IIIa, IIIb, Va, and Vb, and their corresponding genotypes has been elucidated. |
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Keywords: | alcoholism arylsulfatase A pseudodeficiency gene sequence |
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