目的:了解闽南地区人群中HLA-B∗1502的基因频率,探讨筛查HLA-B∗1502的必要性。方法本研究选取268名需服用卡马西平的患者(癫痫患者211例,躁郁症患者33例及三叉神经痛患者24例)和100名健康人,从全血中提取 DNA,采用实时荧光 PCR技术( Real-time PCR)和碱基序列测序技术(SBT)对所有DNA样本进行测定。结果通过检测发现有7.07%的样本含有 HLA-B∗1502,其中,8.58%的患者及3.00%的健康人含有HLA-B∗1502,在患者中HLA-B∗1502的基因频率为0.043,在健康人中为0.015。 PCR法与SBT法检测结果高度一致。结论闽南地区人群中HLA-B∗1502的基因频率较高,因此,需服用卡马西平的患者在服药前有必要进行HLA-B∗1502的筛查。%Objective To examine the gene frequency of HLA-B∗1502 in the population of Minnan region of China in order to explore the importance of HLA-B∗1502 screening. Methods A total of 268 patients on carbamazepine therapy were enrolled, including 211 patients with epilepsy, 33 patients with manic-depressive disorder and 24 patients with prosopalgia. One hundred healthy people served as controls. Genomic DNA was isolated from the blood and HLA-B∗1502 was detected by real-time PCR and sequence-based typing ( SBT) . Results It was found that 8. 58% patients and 3. 00 % healthy people had HLA-B∗1502 expression. The frequencies of HLA-B∗1502 in pa-tients and healthy people were 0. 043 and 0. 015 , respectively. The results of PCR were highly con-sistent with those of SBT. Conclusion The frequency of HLA-B∗1502 in the population of Minnan region of China is relatively high. It is necessary to screen for HLA-B∗1502 in this population before administration of carbamazepine.
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