| 谷氨酸受体6基因多态与孤独症的关联分析 |
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| 引用本文： | 杜亚松,禹顺英,刘漪,汪栋祥,钱依萍,张野,江三多.谷氨酸受体6基因多态与孤独症的关联分析[J].上海精神医学,2005,17(6):343-345. |
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| 作者姓名： | 杜亚松 禹顺英 刘漪 汪栋祥 钱依萍 张野 江三多 |
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| 作者单位： | 200030,上海市精神卫生中心;200030,上海市精神卫生中心;200030,上海市精神卫生中心;200030,上海市精神卫生中心;200030,上海市精神卫生中心;200030,上海市精神卫生中心;200030,上海市精神卫生中心 |
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| 基金项目： | 本研究为上海市卫生局科技发展基金资助（编号：98411） |
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| 摘 要： | 目的 在中国上海地区汉族孤独症家系中探讨谷氨酸受体6（GluR6或GRIK2）基因多态与孤独症是否关联。方法 采用PCR—RFLP法对入组的38个孤独症核心家系成员的GRIK2基因的两个单核苷酸多态性（rs6922753和rs2227283）分型，并进行传递不平衡检验。结果 rs6922753多态的C和T等位基因未发现显著性的偏移传递方式，rs2227283多态在母系传递中出现显著性的偏移，A等位基因较G等位基因传递明显增加。结论 GRIK2基因与孤独症存在传递的连锁不平衡，可能为孤独症的易感基因。
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| 关 键 词： | 孤独症 谷氨酸受体6基因 多态性 |
Association study of glutamate receptor 6 gene polymorphisms with autism |
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| Du Yasong, Yu Shunying, Liu Yi,et al..Association study of glutamate receptor 6 gene polymorphisms with autism[J].Shanghai Archives of Psychiatry,2005,17(6):343-345. |
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| Authors: | Du Yasong Yu Shunying Liu Yi |
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| Institution: | Shanghai Mental Health Institute ,Shanghai,200030 |
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| Abstract: | Objective: To explore the relationship between polymorphisms in glutamate receptor 6 (GluR6 or GRIK2) gene and autism. Methods: The single nucleotide polymorphism (SNP) rs6922753 and rs2227283 in GRIK2 gene were genotyped through PCR - RFLP to assess allelic transmission disequilibrium test. Results: The alleles of SNP rs6922753 did not show significant deviation transmission, but the alleles of rs2227283 showed significant maternal transmission disequilibrium. Conclusion: The results suggested that GRIK2 gene is in linkage disequilibrium in autism, which supported the GRIK2 as a susceptibility gene for autism. |
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| Keywords: | Autism Glutamate receptor 6 gene Polymorphisms |
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