title: Arylsulfatase A pseudodeficiency in Chinese.
abstract: Arylsulfatase A (ASA) pseudodeficiency was found to be much rarer in Taiwan than in most western countries (2.5% versus 7.3%-20% carrier rate). The linkage of two mutations (A2725G and A1788G) in the pseudodeficiency allele was preserved in Chinese, and A2725G did not occur alone. This unusual linkage of mutations has not been fully explained previously because the frequency of A2725G alone was not clear (as low as 4% in the only report). However, A1788G was found in 55 of 160 (34.4%) DNA samples tested in this study. These data suggest that the A2725G mutation occurred in DNA that already contained the A1788G change, at an ancient time in one of our common ancestors.
authors.affiliation: Department of Medical Genetics and Pediatrics, National Taiwan University Hospital, Taipei, ROC.
authors.forename: W L
authors.initials: WL
authors.lastname: Hwu
authors.forename: L P
authors.initials: LP
authors.lastname: Tsai
authors.forename: W C
authors.initials: WC
authors.lastname: Wang
authors.forename: S C
authors.initials: SC
authors.lastname: Chuang
authors.forename: P J
authors.initials: PJ
authors.lastname: Wang
authors.forename: T R
authors.initials: TR
authors.lastname: Wang
mesh_terms: D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002553:Cerebroside-Sulfatase / Q000172:deficiency* / Q000235:genetics*; D005787:Gene Frequency; D008040:Genetic Linkage; D006801:Humans; D008969:Molecular Sequence Data; D017354:Point Mutation / Q000235:genetics; D016133:Polymerase Chain Reaction / Q000379:methods; D013624:Taiwan
chemical_list: D002553:Cerebroside-Sulfatase