JOURNAL OF SHANDONG UNIVERSITY (HEALTH SCIENCES) ›› 2010, Vol. 48 ›› Issue (7): 119-.

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Screening SCN2A gene for mutations in patients with epilepsy with febrile seizures plus

 YU Meijuan1, QinBing2, SHI Yiwu1, GAO Meimei1, DANG Lihua1, LIAO Weiping1   

  • Received:2009-11-06 Online:2010-07-16 Published:2010-07-16

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Abstract:

Objective    To screen the SCN2A gene in Chinese patients diagnosed as having epilepsy with febrile seizures plus( EFS+) and to explore the possible relationship between the SCN2A and EFS+. Methods    After collecting blood samples, we screened all 26 coding exons and introns relevant to mRNA splice of SCN2A gene with denaturing high performance liquid chromatography (DHPLC) technology and then performed sequence analysis on those with abnormal elution peaks. Results     We did not detect gene mutation but found 9 single nucleotide polymorphisms (SNPs). There was a difference in allele frequency of SCN2A introns SNP EXON9-3nt and EXON23-31 nt between the two groups（P＜0.05）.  Conclusion   Intron SNPs EXON9-3nt and EXON23-31nt in SCN2A gene are possibly associated with EFS+.

Key words: Seizures，febrile; Epilepsy; Sodiumchannel; Genes; Polymorphism， single nucleotide

CLC Number: 

  • R742.1
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