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家族性和散发性帕金森病中的酪氨酸羟化酶多态性

Tyrosine hydroxylase polymorphism in familial and sporadic Parkinson's disease.

作者信息

Planté-Bordeneuve V, Davis M B, Maraganore D M, Marsden C D, Harding A E

机构信息

University Department of Clinical Neurology, Institute of Neurology, London, England.

出版信息

Mov Disord. 1994 May;9(3):337-9. doi: 10.1002/mds.870090312.

DOI:10.1002/mds.870090312
PMID:7913740
Abstract

Tyrosine hydroxylase (TH) is a theoretical candidate gene determining susceptibility to Parkinson's disease (PD), and an association between one allele of a polymorphism at the TH locus and sporadic PD has been reported. We investigated TH polymorphism in 44 patients with sporadic PD, 48 patients with familial PD and 89 of their unaffected relatives, and 50 control subjects. No evidence of allelic association was detected in either familial or sporadic PD, and linkage analysis excluded the TH locus, or a closely linked gene, as a major determinant of familial PD.

摘要

酪氨酸羟化酶(TH)是一种理论上可决定帕金森病(PD)易感性的候选基因,并且有报道称TH基因座的一个多态性等位基因与散发性PD之间存在关联。我们研究了44例散发性PD患者、48例家族性PD患者及其89名未患病亲属以及50名对照者的TH多态性。在家族性或散发性PD中均未检测到等位基因关联的证据,连锁分析排除了TH基因座或紧密连锁基因作为家族性PD的主要决定因素。

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