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.
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)