精神分裂症患者SK3基因内CTG重复扩展突变与临床症状的相关研究

A correlation study between CTG repeats in SK3 gene and clinical symptoms for schizophrenic patients

目的 探讨精神分裂症患者的弱传导钙激活钾通道蛋白(SK3)基因内CTG重复数目及其与临床症状的关系。方法 采用聚合酶链反应(PCR)扩增技术,对30例高发家系的精神分裂症患者,30例散发精神分裂症患者以及5个高发家系的10例同病者和17名未患病的一级亲属进行SK3基因内CTG重复数目检测,同时对70例精神分裂症患者进行下列评定:阳性症状评定量表(SAPS)、阴性症状评定量表(SANS)和治疗副反应量表(TESS);韦氏智力量表(WAIS-R)、韦氏记忆量表(WMS)、威斯康星卡片分类测验(WCST)、连线测验A(Trial-A)及语言流利性测验(LFT)。结果 高发和散发精神分裂症患者的CTG重复数目明显高于正常对照者,差异有非常显著性(X±SD分别为8.8±1.2,7.9±0.7,6.2±0.6,P<0.01),尤以高发家系最为明显。CTG重复数目与阴性症状呈显著正相关(r=0.769,P=0.000),而与认知功能呈显著负相关(r=-0.350-0.690,P_均<0.05)。结论 精神分裂症SK3基因内CTG重复多态性变化可能是该病的一个生物学致病因素。

Objective: To explore the relationship of CTG repeats in Small-conductance calcium activated potassium channels ( SK3) gene and clinical symptoms in Chinese schizophrenic patients. Methods: 30 cases with high risk ancestry, 30 of sporadic patients, 10 subjects with comorbidity and 17 first-degree relatives without mental disorder from five high risk families were enrolled. Their CTG repeats in SiG gene were detected by PCR, clinical symptoms of 70 schizophrenics were assessed by SAPS,SANS,TESS;WAIS-R,WMS, WCST, Trial making A test . Language fluency test. Results: The number of CTG repeats in SK3 gene of patients from high risk family or of sporadic were significantly more than normal people (X ± SD was 8. 8 ±1.2, 7. 9 ±0. 7,6. 2 ±0. 6 respectively, P <0.01) .especially in patients from high risk family. The number of CTG repeats were positively correlated with negative symptoms (r = 0. 769, P = 0. 000), negatively correlated with cognitive function (r = -0. 350 - 0. 690, P < 0. 05). Conclusion: CTG repeats polymorphism in SK3 gene may be a biological etiological factor of schizophrenia.