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Research Article

精神分裂症患者罕见的白细胞介素-15的受体α变异干扰信号传导

卷 19, 期 8, 2019

页: [560 - 569] 页: 10

弟呕挨: 10.2174/1566524019666190617172054

价格: $65

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摘要

背景：精神分裂症是一种复杂、衰弱的精神疾病，遗传力强。其发病机制与免疫调节失调有关。白细胞介素15和白细胞介素15受体α(IL-15Rα)是经典的免疫分子。他们也有助于维持正常的大脑功能，导致我们假设IL-15Rα基因(IL-15RA)变异与精神分裂症的发病有关。 目的：探讨IL-15 RA的基因变异是否与精神分裂症的发生发展有关，以及IL-15 RA单核苷酸多态性(Snp)是否在下游信号转导中发挥重要作用。 方法和结果：我们对132例中国精神分裂症患者的IL-15RA外显子进行了测序，并在一例诊断为紧张性精神分裂症和强直性脊椎炎（AS）的患者中鉴定了一个罕见的变异体(Rs 528238821)。 我们在PBI-CMV载体驱动的细胞中过度表达了这一错义变异.细胞在白细胞介素15的作用下STAT 3的磷酸化减弱。 结论：IL-15RA突变在精神分裂症患者中很少见，但对IL-15Rα细胞内信号转导有干扰作用。考虑到紧张性精神分裂症状和IL-15Rα基因敲除小鼠的N表型具有相似性、基因变异对精神分裂症亚型有诊断价值。

关键词: 白细胞介素—15受体α，白细胞介素——15，单核苷酸多态性，精神分裂症，IL-15RA，STAT 3磷酸化。

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