儿童交替性偏瘫家系ATP1A2基因的检测

儿童交替性偏瘫家系ATP1A2基因的检测

ATP1A2 gene mutation detection in an alternating hemiplegia of childhood family

摘要/Abstract

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山东大学学报(医学版) ›› 2011, Vol. 49 ›› Issue (11): 79-.

袁超1，赵敬杰2，刘军莉2，尚伟1

山东大学第二医院 1.神经内科； 2.分子生物学实验室，济南 250033

收稿日期:2011-05-14 出版日期:2011-11-10 发布日期:2011-11-10
通讯作者: 尚伟（1967- ），男，教授，硕导，主要从事癫痫的研究。E-mail：wshang85@yahoo.com.cn
作者简介:袁超（1984- ），男，硕士研究生，主要从事癫痫的研究。
基金资助:
山东省科技厅中青年科学家科研奖励基金资助项目 (2006BS03004)；山东省自然科学基金资助项目（Y2007C093）

YUAN Chao1, ZHAO Jing-jie2, LIU Jun-li2, SHANG Wei1

1. Department of Neurology; 2. Laboratory of Molecular Biology,
The Second Hospital of Shandong University， Jinan 250033, China

Received:2011-05-14 Online:2011-11-10 Published:2011-11-10

摘要：

目的对儿童交替性偏瘫(AHC)的家系进行基因检测，查找AHC发病的基因突变点。方法对1个患儿交替性偏瘫家族的5名成员提取DNA，根据突变区域设计引物，进行PCR扩增,将所得到的DNA产物进行基因测序。结果用正常ATP1A2基因片段序列和基因测序序列进行比对，基因测序图中在1237c碱基处未见明显双峰，其他位置波形亦无异常双峰，在5个样本中均未发现基因突变点。结论 ATP1A2基因突变与儿童交替性偏瘫发病的联系还有待进一步证实。

关键词: 偏瘫；儿童；基因，ATP1A2；典型偏头痛

Abstract:

Objective To detect ATP1A2 gene mutation in an alternating hemiplegia of childhood(AHC) family，in order to find a new genetic mutation leading to AHC. Methods DNA was extracted from 5 patients from a AHC family，then the primer was designed according to the mutation domain for PCR, and PCR DNA products were sequenced for the mutation. Results Compared with the normal ATP1A2 gene sequence, no mutation was found in the detected gene sequence. There was no obvious doublet at 1,237c and other sites in the gene sequencing figure. There was no gene mutation in DNA samples from the 5 patients. Conclusion The relationship between ATP1A2 gene mutation and AHC should be confirmed by further research.

Key words: Hemiplegia; Child; Genes, ATP1A2; Classic migraine

中图分类号:

R748

袁超1，赵敬杰2，刘军莉2，尚伟1. 儿童交替性偏瘫家系ATP1A2基因的检测[J]. 山东大学学报(医学版), 2011, 49(11): 79-.

YUAN Chao1, ZHAO Jing-jie2, LIU Jun-li2, SHANG Wei1. ATP1A2 gene mutation detection in an alternating hemiplegia of childhood family[J]. JOURNAL OF SHANDONG UNIVERSITY (HEALTH SCIENCES), 2011, 49(11): 79-.

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