中国南方人偏头痛CACNAlA基因多态性相关研究

研究目的:通过检测偏头痛患者和FHM家族外周血CACNAlA基因三个常见的突变位点,分析探讨中国南方人FHM与CACNAlA基因突变之间的关系。2.方法:采用SSCP方法对2个FHM家族10个受试者及12个无症状亲属和53个无FHM家族史的有先兆偏头痛及10个健康对照的外周血标本进行检测,分析CACNAlA基因的三个常见突变位点(T666M、R583Q和D715E)在FHM家族中的表现形式。3.结果:CACNAlA基因三个常见的突变T666M、R5830和D715E在2个FHM家族10个受试者12个无症状亲属和53个无FHM家族史的有先兆偏头痛及10个健康对照中均未检测到。4.结论:在中国人FHM家族中未发现有T666M、R583Q和D715E三个突变。FHM以及有先兆偏头痛与CACNAlA基因的相关性有待进一步研究。

Related study of CACNAIA polymorphism in migraine with aura and familial hemiplegic migraine

Objective: To detect the three most frequent mutations in CACNA1A gene in the peripheral blood of patients with FHM. To' study the association of the mutations in CACNA1A and FHM in the southern people from China. 2. Methods: SSCP was used to detect the three most frequent mutations in 2 families with hemiplegic migraine and 53 patients with migraine with aura and 10 controls. 3. Results: None of the sequence variants were detected in the chromosomes from 2 families with hemiplegic migraine .neither in the group of migraine with aura and the controls. 4. conclusion: None of the three most frequent mutations (T666M, RS830. D715E) were detected in the chromosomes from Chinese people with FilM. The relationship between FHM and migraine with aura and CACNA1A gene need to be further in-vestigated.