title: A method for rapid detection of arylsulfatase A pseudodeficiency mutations.
abstract: Pseudodeficiency of arylsulfatase A is a complicating factor in the determination of metachromatic leukodystrophy risk and carrier status. A method using polymerase chain reaction and restriction enzyme digestion to detect the presence of both the mutations that contribute to arylsulfatase A pseudodeficiency is described using DNA from blood or buccal cells. Application of this technique should facilitate determination of metachromatic leukodystrophy status and counseling in families where the pseudodeficiency allele is present.
authors.affiliation: Department of Psychiatry, University of Medicine and Dentistry of New Jersey-Robert Wood Johnson Medical School, Piscataway, N.J. 08854, USA.
authors.forename: M H
authors.initials: MH
authors.lastname: Ricketts
authors.forename: X
authors.initials: X
authors.lastname: Zhang
authors.forename: P
authors.initials: P
authors.lastname: Manowitz
mesh_terms: D001483:Base Sequence; D002553:Cerebroside-Sulfatase / Q000172:deficiency* / Q000235:genetics*; D002610:Cheek; D004247:DNA / Q000032:analysis / Q000097:blood; D004252:DNA Mutational Analysis; D015252:Deoxyribonucleases, Type II Site-Specific; D003937:Diagnosis, Differential; D006580:Genetic Carrier Screening; D006801:Humans; D007966:Leukodystrophy, Metachromatic / Q000175:diagnosis* / Q000235:genetics; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D012307:Risk Factors
chemical_list: D004247:DNA; C056434:endodeoxyribonuclease BsrI; D015252:Deoxyribonucleases, Type II Site-Specific; D002553:Cerebroside-Sulfatase