Mutation screening of the HDC gene in Chinese Han patients with Tourette syndrome
Mutation screening of the HDC gene in Chinese Han patients with Tourette syndrome
复制标题
中国汉族抽动秽语综合征患者HDC基因突变筛查
DOI：
10.1002/ajmg.b.32003
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发表时间：
2012-01-01
影响因子：
2.8
通讯作者：
Deng, Hao
中科院分区：
文献类型：
--
作者：
Lei, Jing;Deng, Xiong;Deng, Hao
抽动秽语综合征（TS）是一种以发声和运动抽动为特征的复杂的神经精神疾病。虽然环境原因已被提出发挥作用，但遗传因素被认为是该疾病及其临床表现的主要决定因素。最近，在组氨酸脱羧酶基因（HDC）的杂合W317 X突变被报道负责TS在两代的家系。为探讨HDC基因在中国汉族人群TS中的作用，我们对100例中国汉族TS患者的HDC基因编码区进行了遗传学分析。发现了三种变体，包括C>T转换（IVS 1 + 52 C>T），外显子4中的新C>A转换（c.426 C>A）和外显子12中的新G>A转换（c.1743 G>A），两者均预测无氨基酸变化。在总共120名TS患者和240名性别、年龄和种族匹配的健康对照中进行了扩展分析。这三种变异体的基因型和等位基因分布在患者和对照组之间没有显著差异（基因型分布P=0.274、P=1.000、P=0.632;等位基因分布P=0.143、P=1.000和P=0.582），提示HDC基因的变异可能在中国汉族人群TS易感性中起很小或不起作用。(C)2011 Wiley Periodicals，Inc.
Tourette Syndrome (TS) is a complex neuropsychiatric disorder characterized by vocal and motor tics. While environmental causes have been proposed to play a role, genetic factors are believed to be the main determinants of the disorder and its clinical manifestations. Recently, a heterozygous W317X mutation in the histidine decarboxylase gene (HDC) was reported to be responsible for TS in a two-generation pedigree. To investigate whether the HDC gene play a role in TS in Chinese Han population, we performed genetic analysis of the coding region of the HDC gene in 100 Chinese Han patients with TS. Three variants were found including a C>T transition (IVS1+52C>T), a novel C>A transition (c.426C>A) in exon 4, and a novel G>A transition (c.1743G>A) in exon 12, both predicted with no amino acid change. Extended analysis was conducted in a total of 120 TS patients and 240 sex, age, and ethnicity matched healthy controls. No significant differences in genotypic and allele distribution between patients and controls for these three variants (P=0.274, P=1.000 and P=0.632 for genotypic distribution, respectively; P=0.143, P=1.000 and P=0.582 for allele distribution, respectively) were observed, suggesting variants in the HDC gene may play little or no role in TS susceptibility in Chinese Han population. (C) 2011 Wiley Periodicals, Inc.