小脑性共济失调症患者谷氨酸受体δ2基因12号外显子突变研究  

Mutational Study of Exon 12 of Glutamate Receptor δ2 Gene in Patients with Cerebellar Ataxia

作　　者：刘睿婷[1] 王朝东[2] 张昆南[2] 曹文锋[2] 胡国柱[3] 吴晓牧[2] 

机构地区：[1]南昌大学研究生院医学部 [2]江西省人民医院神经内科,南昌330006 [3]江西省人民医院临床医学研究所,南昌330006

出　　处：《实用临床医学（江西）》2009年第1期7-9,F0003,共4页Practical Clinical Medicine

摘　　要：目的探讨小脑性共济失调症患者谷氨酸受体δ2(GluRδ2)基因12号外显子突变的情况。方法采用PCR、琼脂糖凝胶电泳及DNA测序方法检测24例小脑性共济失调症患者(有家族史者17例、散发者7例)及其16名无症状家系成员和10名正常人的GluRδ2基因12号外显子突变情况。结果经PCR扩增和琼脂糖凝胶电泳后,24例患者、16名无症状家系成员及10名正常人12号外显子均可见一长度为222bp片段,未见该外显子纯合缺失突变。DNA测序结果显示,24例患者未发现类似ho5J小鼠的突变碱基缺失及Lurcher小鼠的突变碱基置换。结论小脑性共济失调症患者中不存在GluRδ2基因12号外显子纯合缺失突变,也不存在碱基突变或缺失,提示GluRδ2基因12号外显子与本病发病机制可能无关。Objective To explore mutations within exon 12 of the human glutamate receptor delta Z gene （GluRδ2）among patients with cerebellar ataxia. Methods Subjects included in the test were 24 patients with cerebellar ataxia（17 patients with hereditary cerebellar ataxias and 7 unrelated sporadic cerebellar ataxias patients）, 16 family members and 10 normal controls. Polymerase chain reaction（PCR）, agarose gel electrophoresis（AGE）, and direct sequencing analysis were performed to detect mutations within exon 12 of the human GluRδ2 gene. Results All samples of 24 patients, 16 family members and 10 normal controls by PCR amplification and AGE showed the 222 bp amplified fragment and no homozygous deletion was observed. DNA sequencing results displayed neither mutation similar to hoSJ nor to lurcher mutant,as seen in mice,a- mong 24 patients. Conclusion Homozygous deletion or point mutation within exon 12 of the human GluRδ2 gene does not exist among patients with cerebellar ataxia. The pathogenesis of cerebellar ataxia may not involved mutations within exon 12 of human GluRδ2 gene.

关 键 词：小脑性共济失调 谷氨酸受体δ2基因 突变分析 

分 类 号：R742.82[医药卫生—神经病学与精神病学]