小儿脑性瘫痪与GAD1基因相关性研究

Association Between Children Cerebral Palsy and GAD1 Gene

目的小儿脑性瘫痪是严重威胁儿童健康的致残性疾病,其原因和发病机制至今尚不完全清楚。本研究运用分子生物学技术,对小儿脑瘫患儿GAD1基因部分外显子进行研究,探究小儿脑瘫人群易感性。方法收集脑瘫和对照患儿各109例,经患者家属同意对儿童采集外周血,用试剂盒提取DNA,设计引物,并运用PCR-SSCP方法对病例组与对照组血样GAD1基因第2、7、10外显子进行检测。结果对病例组和对照组共218例血样进行PCR-SSCP筛查,未检测出异常。结论 GAD1基因第2、7、10外显子未发现突变,小儿脑瘫与GAD1基因第2、7、10外显子可能无关联性,但不排除其他外显子与脑瘫相关。

Objective Cerebral palsy in children is a disabling disease, a serious threat to children＇s health. The reason and pathogenesis is not entirely clear yet. In this study, we used molecular biology techniques to investigate the genic extron of GAD1 gene in order to further explore the children cerebral palsy susceptibility. Methods We collected 109 cases of children cerebral palsy （case group）, and 109 children as control group. Under the informed consent of their families, we took and isolated the peripheral blood and extracted DNA with DNA extraction kit. After designing primers, we used PCR-SSCP to detect the mutation of genic extrons 2, 7 and 10 of GAD1 gene from the blood samples of both the case group and the control group. Results We failed to detect mutation from the GAD1 gene by using PCR-SSCP to screen the 218 cases of blood samples from the case group and the control group. Conclusion Cerebral palsy is not correlated with the extrons 2,7 and 10 of GAD1 gene, for we failed to detect mutation from the extrons 2,7 and 10 of GAD1 gene.