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谷氨酸受体6基因多态与孤独症的关联分析 被引量：2

Association study of glutamate receptor 6 gene polymorphisms with autism
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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。 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.
作者 杜亚松 禹顺英 刘漪 汪栋祥 钱依萍 张野 江三多
机构地区 上海市精神卫生中心
出处 《上海精神医学》 2005年第6期343-345,共3页 Shanghai Archives of Psychiatry
基金 本研究为上海市卫生局科技发展基金资助(编号:98411)
关键词 孤独症 谷氨酸受体6基因 多态性 Autism Glutamate receptor 6 gene Polymorphisms
分类号 R749.99 [医药卫生—神经病学与精神病学]
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参考文献11

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二级参考文献8

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上海精神医学
2005年 第6期

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