Association of CACNA1A gene polymorphism with familial hemiplegic migraine in southern Chinese

Chen Feng; Fang Yan-nan; Li Hai-rong; Wang Xue-jing

doi:10.3321/j.issn:1673-8225.2006.08.009

Abstract：BACKGROUND: The involvement of genetic factors in migraine has been under close investigation, and geneiic epidemiological study and segregation analysis have confirmed genetic disposition as an important risk factor for migraine.OBJECTIVE: To analyze the connection between mutations in CACNA1A gene and familial hemiplegic migraine (FHM) in southern Chinese Han patients by examining the three most frequently mutated sites in CACN1A gene.DESIGN: Sampled survey.SETTING: First Affiliated Hospital of Zhongshan University and Baoan Xixiang People's Hospital of Shenzhen City.PARTICIPANTS: All the participants were selected from patients in the above two hospitals and their relatives, including 10 patients with FHM, 12 relatives of the patients in 2 pedigrees, 53 migraine patients with aura without family history, and 10 healthy control subjects.METHODS: The exons 13, 16 and 17 of CACNL1A4 gene were amplified by PCR. Single-strand conformation polymorphism technique was employed to detect the most frequent mutations in the 3 exons (T666M, R583Q and D715E) in these subjects.MAIN OUTCOME MEASURES: ① Results of PCR amplification of the 3 exons of CACNL1A4 gene; ② Results of SSCP for mutation analysis of the 3 exons.RESULTS: Participants completed the study. The target fragment length of exons 13, 16 and 17 were 247 bp, 268 bp and 204 bp, respectively.None of mutations of T666M, R583Q and D715E were detected in the subjects, including FHM patients and their relatives, migraine patients without family history and the healthy control subjects.CONCLUSION: None of the 3 most frequent mutations (T666M, R583Q and D715E) can be detected in southern Chinese FHM pedigrees or migraine patients without family history.