Article
Arylsulfatase A pseudodeficiency: a common polymorphism which is associated with a unique haplotype.
American journal of medical genetics - 15 Aug 1994
Zlotogora J, Furman-Shaharabani Y, Goldenfum S, Winchester B, von Figura K, Gieselmann V
Abstract excerpt
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...
Topics
- Alleles
- Arab World
- Cerebroside-Sulfatase
- Chromosomes, Human, Pair 22
- Ethnicity
- Fragile X Syndrome
- Gene Frequency
- Haplotypes
- Humans
- Israel
- Jews