Intron mutations of GABRG2 gene in patients with epilepsy combined with febrile seizures plus:an in vitro splicing assay / 中华神经医学杂志
Chinese Journal of Neuromedicine
; (12): 602-604, 2011.
Article
en Zh
| WPRIM
| ID: wpr-1033292
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WPRO
ABSTRACT
Objective To screen the GABRG2 gene in Chinese patients diagnosed as having epilepsy with febrile seizures plus (EFS+) and analyze the in vitro splicing of intron mutations of GABRG2 gene. Methods After collecting the blood samples from patients with EFS+, all 9 coding exons and introns relevant to mRNA splice of GA BRG2 gene were sequenced by PCR. PCR products of exons 7, 8 and 9 and part of the introns of both ends of GABRG2 gene were cloned into the pTARGET vector to construct pTARGET-Exon-7-8-9 minigene vector and its Exon8+45C>T mutation vector.Wild-type and Exon8+45C>T mutation vector were transfected into HEK 293 cells and extracted RNA for RT-PCR. Results We did not detect mutation in GABRG2 gene coding region, but found 1 mutation in intron Exon8+45C>T. After splicing, the size of RT-PCR products of Wild-type and Exon8+45 OT mutation were both 522 bp. Conclusion Mutations in GABRG2 gene coding region are not likely to be substantially involved in the etiology of EFS+. Exon8+45C>T mutation does not affect the splicing of GABRG2 gene.
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Idioma:
Zh
Revista:
Chinese Journal of Neuromedicine
Año:
2011
Tipo del documento:
Article