芳基硫酸酯酶A假性缺乏：一种与独特单倍型相关的常见多态性。
Arylsulfatase A pseudodeficiency: a common polymorphism which is associated with a unique haplotype.
作者信息
Zlotogora J, Furman-Shaharabani Y, Goldenfum S, Winchester B, von Figura K, Gieselmann V
机构信息
Department of Human Genetics, Hadassah Hospital and Medical School, Hebrew University, Jerusalem, Israel.
出版信息
Am J Med Genet. 1994 Aug 15;52(2):146-50. doi: 10.1002/ajmg.1320520205.
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.
溶酶体酶芳基硫酸酯酶A（ARSA）的假缺陷（PD）等位基因在所有人群中都是一种常见的多态性。在不同的以色列族群中，PD等位基因频率在9.2%至22.7%之间。PD等位基因在大约1 kb的区间内包含两种不同的突变PD(1)和PD(2)。在本研究中，我们证实虽然PD(1)可能单独作为一种多态性存在，但PD(2)总是与PD等位基因相关联（共筛查了660个等位基因）。对三个ARSA基因内多态性的分析表明，PD等位基因与由三个多态性限制性位点定义的单倍型之间存在完全连锁不平衡。结果表明，PD多态性的起源可能是一个共同的奠基者，或者是在一个独特单倍型中发生的反复突变。
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