title: Arylsulfatase A pseudodeficiency: a common polymorphism which is associated with a unique haplotype.
abstract: The allele for pseudodeficiency (PD) of the lysosomal enzyme arylsulfatase A (ARSA) is a common polymorphism in all populations. The PD allele frequency in different Israeli ethnic groups was found to range from 9.2-22.7%. The PD allele includes two different mutations PD(1) and PD(2) in an approximately 1 Kb interval. In this study we confirmed that while PD(1) may be found alone as a polymorphism, PD(2) is always associated with the PD allele (660 alleles screened). Analysis of three ARSA intragenic polymorphisms showed a complete linkage disequilibrium between the PD allele and an haplotype defined by the three polymorphic restriction sites. The results suggest that the origin of the PD polymorphism may be a common founder, or recurrent mutations which are occurring in a unique haplotype.
authors: Department of Human Genetics, Hadassah Hospital and Medical School, Hebrew University, Jerusalem, Israel.
authors: J
authors: J
authors: Zlotogora
authors: Y
authors: Y
authors: Furman-Shaharabani
authors: S
authors: S
authors: Goldenfum
authors: B
authors: B
authors: Winchester
authors: K
authors: K
authors: von Figura
authors: V
authors: V
authors: Gieselmann
mesh_terms: D000483:Alleles; D018643:Arab World; D002553:Cerebroside-Sulfatase / Q000172:deficiency* / Q000235:genetics; D002892:Chromosomes, Human, Pair 22; D005006:Ethnicity / Q000235:genetics*; D005600:Fragile X Syndrome / Q000235:genetics; D005787:Gene Frequency; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D007557:Israel; D007585:Jews / Q000235:genetics; D015810:Linkage Disequilibrium; D008247:Lysosomes / Q000201:enzymology; D009223:Myotonic Dystrophy / Q000235:genetics; D017354:Point Mutation; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D015006:Yemen / Q000208:ethnology
chemical_list: D002553:Cerebroside-Sulfatase