葡萄牙人群中与ARSA-PD相关的等位基因：频率测定与单倍型分析。

ARSA-PD associated alleles in the Portuguese population: frequency determination and haplotype analysis.

作者信息

Marcão Ana, Pinto Eugénia, Rocha Sónia, Sá Miranda M C, Ferreira Luís, Amaral Olga

机构信息

Lysosome and Peroxisome Biology Unit, Institut for Molecular and Cell Biology, IBMC, Rua do Campo Alegre, 823, 4150-180 Porto, Portugal.

出版信息

Mol Genet Metab. 2003 Aug;79(4):305-7. doi: 10.1016/s1096-7192(03)00092-1.

DOI:10.1016/s1096-7192(03)00092-1

PMID:12948748

Abstract

Arylsulfatase A pseudodeficiency (ARSA-PD) may be related to increased susceptibility to neuro-psychiatric disorders. An association of allele 2417G/3352A with schizophrenia was found in a group of Portuguese patients. In the Portuguese population, at least one PD associated alteration exists in 18.3% of the ARSA alleles. Allele 2417G/3352G was invariably associated with a conserved haplotype, while 2417G/3352A and the rare 2417A/3352G alleles appeared on different haplotypes.

摘要

芳基硫酸酯酶A假性缺陷（ARSA-PD）可能与神经精神疾病易感性增加有关。在一组葡萄牙患者中发现等位基因2417G/3352A与精神分裂症有关联。在葡萄牙人群中，18.3%的ARSA等位基因存在至少一种与假性缺陷相关的改变。等位基因2417G/3352G总是与一种保守单倍型相关，而2417G/3352A和罕见的2417A/3352G等位基因出现在不同单倍型上。