一个低钾性周期性麻痹中国家系中CACNA1S基因的R1239H突变
[R1239H mutation of CACNA1S gene in a Chinese family with hypokalaemic periodic paralysis].
作者信息
Ke Qing, Wu Wei-ping, Guo Xiu-hai, Xu Quan-gang, Huang De-hui, Mao Yan-ling, Huo Chun-nuan
机构信息
Department of Neurology, General Hospital of PLA, Beijing, 100853 PR China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2006 Jun;23(3):272-4.
OBJECTIVE
Mutation screening was performed to a Chinese family with hypokalaemic periodic paraiysis(HOKPP) for locating the corresponding mutations of gene and for specifying the clinical features associated with mutations.
METHODS
The cilnical features of patients from HOKPP family were summurized. Techniques of target exon PCR and direct sequencing were used to screen the mutation in CACNA1S and SCN4A genes in all numbers of the family.
RESULTS
Two patients of the family showed the typical features of HOKPP: the age of disease onset is during the childhood, acetazolamide is effective to patients treated. A heterozygous point mutation 3716 (G>A) causing R1239H was found in exon 30 of CACNA1S gene of the patients, but not found in normal members of the family.
CONCLUSION
The mutant R1239H in CACNA1S gene exists in Chinese patients with familial hypokalaemic periodic paralysis.
目的
对一个低钾性周期性麻痹（HOKPP）中国家系进行突变筛查，以定位相关基因的突变位点并明确与突变相关的临床特征。
方法
总结HOKPP家系患者的临床特征。采用目标外显子PCR和直接测序技术对家系所有成员的CACNA1S和SCN4A基因进行突变筛查。
结果
该家系两名患者表现出典型的HOKPP特征：发病年龄在儿童期，乙酰唑胺对治疗患者有效。在患者的CACNA1S基因第30外显子中发现一个导致R1239H的杂合点突变3716（G>A），而在家族正常成员中未发现。
结论
中国家族性低钾性周期性麻痹患者中存在CACNA1S基因的R1239H突变。
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