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内侧颞叶癫病人脑组织GABRG2基因变异研究 被引量:1

Mutations of GABRG2 gene in the brain tissue of patients with medial temporal lobe epilepsy
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摘要 目的探讨GABRG2基因变异与内侧颞叶癫间疒的关系。方法运用RT-PCR方法测定内侧颞叶癫间疒致间疒灶和其他类型癫间疒病人手术切除脑组织内的GABRG2基因mRNA序列。结果全组共发现3处单核苷酸多态性,其中内侧颞叶癫间疒组245 G→A出现频率与对照组存在统计学差异。结论GABRG2基因突变极有可能在内侧颞叶癫间疒的发病中起重要作用。 Objective To study the relationship between the medial temporal epilepsy and mutations of GABRG2 gene. Methods Samples from the brain tissues confirmed as the epileptogenic areas were divided into two groups: medial temporal lobe epilepsy and other types epilesy as control. All the samples were detected by RT-PCR and sequencing. Results Three single nucleotide polymorphisms (SNPs) were found and statistically significant difference was observed for 245 G→A variant between the two groups. Conclusion Mutations of GABRG2 gene may play an important role in the occurrence of the medial temporal lobe epilepsy.
出处 《中国微侵袭神经外科杂志》 CAS 2005年第4期174-175,共2页 Chinese Journal of Minimally Invasive Neurosurgery
基金 国家自然科学基金资助项目(30130110)
关键词 癫痫 颞叶 点突变 逆转录聚合酶链反应 GABRG2基因 epilepsy, temporal lobe point mutations reverse transcriptase polymerase chain reaction GABRG2 gene
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参考文献6

  • 1Harkin LA, Bowser DN, Dibbens LM, etal. Truncation of the GABAA-receptor γ2 subunit in a family with generalized epilepsywith febrile seizures plus [J]. Am J Hum Genet, 2002;70(2): 530-536.
  • 2Dube C, Chen K, Eghbal-Ahmadi M, et al. Prolonged febrile seizures in the immature ratmodel enhance hippocampal excitability long term [J]. Ann Neurol, 2000; 47(3): 336-344.
  • 3VanLandingham KE, Heinz ER, Cavazos JE, et al. Magnetic resonance imaging evidence ofhippocampal injury after prolonged, focal febrile convulsions [J]. Ann Neurol, 1998;43(4):413 -426.
  • 4Cendes F. Febrile seizures and mesial temporal sclerosis [J].Curr Opin Neurol, 2004;17(2): 161-164.
  • 5Wallace RH, Marini C, Petrou S, et al. Mutant GABAA receptor γ2-subunit in childhoodabsence epilepsy and febrile seizures [J]. Nat Genet, 2001; 28(1): 49-52.
  • 6Kucken AM, Wagner DA, Ward PR, et al. Identification of benzodiazepine binding siteresidues in the γ2 subunit of the gamma-aminobutyric acid(A) receptor [J]. MolPharmacol,2000; 57(5): 932-939.

同被引文献4

  • 1Scheffer IE,Berkovie SF.Generalized Epilepsy withfebrile Seizures plus:a gentic disorder with hererogeneous clinical phenotyes[J].Brain,1997,120:479.
  • 2Baulac S,Huberfeld G,Gourtinkel-An I,et al.First genetic evidence of GABA(A)receptor dysfunction in epilepsy:a mutation in the gamma2-subunit in childhood absence epilepsy and febrile seizures[J].Nat Genet,2001,28(1):49-52.
  • 3Wallace RH,Marini C,Petrou S,et al.Mutant GABAA receptor γ2-subunit in childhood absence epilepsy and febrile seizures[J].Natu Gene,2001,28:49-52.
  • 4Harkin LA,David N,Bowser Truncation of the GABAA-Receptor 2 Subunit in a Family with Generalized Epilepsy with Febrile Seizures Plus[J].Am J Hum Genet,2002,70(2):530-536.

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