<br>人类 GABABR1 受体基因的定位、基因组结构和多态性：评估其与特发性全身性癫痫的关系。,Neurogenetics

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人类 GABABR1 受体基因的定位、基因组结构和多态性：评估其与特发性全身性癫痫的关系。
Neurogenetics ( IF 1.6 ) Pub Date : 1998-12-01 , DOI: 10.1007/s100480050051
H C Peters ₁ , G Kämmer , A Volz , K Kaupmann , A Ziegler , B Bettler , J T Epplen , T Sander , O Riess

Affiliation

神经生理学和药理学研究表明 GABAB 受体在失神发作的癫痫发生中起主要作用。最近通过原位杂交将编码人类 GABABR1 受体 (GABABR1) 的基因定位到人类染色体 6p21.3，该区域包含特发性全身性癫痫 (IGE) 的易感位点 (EJM1)。我们通过以下方式研究了 GABABR1 基因 (GABBR1) 代表 EJM1 候选基因的假设：(1) 定义 HLA-F 基因座端粒约 130 kilobase 处的精确定位，(2) 通过表征其基因组组织，以及 (3)通过对 18 名德国青少年肌阵挛性癫痫 (JME) 患者的 GABBR1 整个编码区进行突变筛查，这些患者来自有证据表明与染色体 6p21.3 连锁的家庭（HLA-DQ 的累积对数评分 Z=3.17）。 GABAB 受体基因由 22 个翻译外显子组成。两个替代转录本 GABABR1a 和 GABABR1b 来自同一基因座，但它们的替代 5' 外显子不同。 JME 中的突变分析揭示了几种 DNA 序列多态性，其中两种多态性导致两个家族的所有受 IGE 影响的成员发生氨基酸变化。然而，临床上未受影响的亲属确实携带相同的变异，排除这些氨基酸取代作为这些家族中 IGE 的原因。

"点击查看英文标题和摘要"

Mapping, genomic structure, and polymorphisms of the human GABABR1 receptor gene: evaluation of its involvement in idiopathic generalized epilepsy.

Neurophysiological and pharmacological studies suggest a major role of the GABAB receptor in the epileptogenesis of absence seizures. The gene encoding the human GABABR1 receptor (GABABR1) has recently been mapped to human chromosome 6p21.3 by in situ hybridization, a region that harbors a susceptibility locus (EJM1) for idiopathic generalized epilepsy (IGE). We investigated the hypothesis that the GABABR1 gene (GABBR1) represents a candidate gene for EJM1 by: (1) defining the precise localization approximately 130 kilobases telomeric to the HLA-F locus, (2) by characterizing its genomic organization, and (3) by mutation screening of the entire coding region of GABBR1 in 18 German patients with juvenile myoclonic epilepsy (JME) who were derived from families with evidence for linkage to chromosome 6p21.3 (cumulative lod score Z=3.17 at HLA-DQ). The GABAB receptor gene consists of 22 translated exons. The two alternative transcripts, GABABR1a and GABABR1b, are derived from the same locus but they differ in their alternative 5'-exons. Mutation analyses in JME revealed several DNA sequence polymorphisms, two of which result in amino acid changes occurring in all IGE-affected members of two families. However, clinically unaffected relatives did carry the same variations, excluding these amino acid substitutions as the cause for IGE in these families.

更新日期：2019-11-01

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