阿根廷原发性肌张力障碍患者D216H多态性分析。

Analysis of D216H polymorphism in Argentinean patients with primary dystonia.

作者信息

Caputo Mariela, Irisarri Maximiliano, Perandones Claudia, Alechine Evguenia, Pellene Luis Alejandro, Roca Claudia Uribe, Micheli Federico E, Corach Daniel

机构信息

Servicio de Huellas Digitales Genéticas, School of Pharmacy and Biochemistry, University of Buenos Aires, CABA, Argentina.

出版信息

J Neurogenet. 2013 Jun;27(1-2):16-8. doi: 10.3109/01677063.2012.761697. Epub 2013 Feb 13.

DOI:10.3109/01677063.2012.761697

PMID:23405979

Abstract

The D216H polymorphism (rs1801968) in TOR1A has been suggested as a risk factor for developing primary dystonia in German subjects not carrying the deletion c.904-906delGAG (∆GAG). However, this association could not be confirmed in other populations with different ethnic backgrounds. The purpose of this study is to evaluate the D216H polymorphism in an Argentinean cohort of 40 patients with primary dystonia and 200 unrelated control subjects. The authors could observe a significantly higher frequency of the H216 variant in dystonic patients lacking ∆GAG as compared with controls.

摘要

TOR1A基因中的D216H多态性（rs1801968）被认为是在不携带c.904-906delGAG（∆GAG）缺失的德国受试者中发生原发性肌张力障碍的一个风险因素。然而，在其他具有不同种族背景的人群中，这种关联未能得到证实。本研究的目的是评估40例原发性肌张力障碍患者和200例无关对照受试者组成的阿根廷队列中的D216H多态性。作者观察到，与对照组相比，缺乏∆GAG的肌张力障碍患者中H216变体的频率显著更高。