IL1RAPL1基因多态性与秦巴山区汉族儿童非特异精神发育迟滞的相关性研究  

Association between IL1RAPL1 gene polymorphism and non-specific mental retardation in the Chinese Han population of Qinba region

作　　者：张淑苗[1,2] 张科进[1] 高晓彩[1,3] 郑子健[3] 李瑞林[4] 韩宁[1] 张富昌[1] 

机构地区：[1]西北大学生命科学学院西部资源生物与现代生物技术教育部重点实验室人口与健康研究所,陕西西安710069 [2]第四军医大学基础部生理学教研室,陕西西安710033 [3]西北大学公共管理学院应用心理学研究所,陕西西安710069 [4]西安交通大学第二附属医院,陕西西安710004

出　　处：《第四军医大学学报》2009年第23期2714-2717,共4页Journal of the Fourth Military Medical University

基　　金：国家十五科技攻关计划项目(2001BA901A49);陕西省十一五科技攻关计划项目(2007K01-25)

摘　　要：目的:探讨IL1RAPL1基因与秦巴山区儿童非特异精神发育迟滞(Non-specific mental retardation,NSMR)之间的关系.方法:选择IL1RAPL1基因上的单核苷酸多态性(SingleNucleotide Polymorphism,SNP)位点rs12847959,rs6526806,rs6630762和rs1564643作为遗传标记,对秦巴山区儿童进行了病例-对照人群研究.通过PCR-SSCP、琼脂糖凝胶电泳、聚丙烯酰胺凝胶电泳、测序等手段建立试验体系.结果:rs6630762位点在秦巴山区儿童中不具有多态性,rs6526806在男性儿童中其等位基因频率分布在NSMR组和正常对照组儿童之间具有极其显著性差异(P<0.01).结论:IL1RAPL1基因与秦巴山区男性儿童的NSMR有一定的关联,但需要在更大的样本中,选择更多的遗传标记来进一步验证.AIM：To investigate the relationship between the variations of IL1RAPL1 and non-specific mental retardation（NSMR）.METHODS：A case-control association study was performed to focus on the Han children from Qinba region using four common SNPs in the gene（rs12847959,rs6526806,rs6630762,rs1564643）.RESULTS：The SNP rs6630762 has no polymorphisms in the Han children of northwestern China.There was significant difference between NSMR and controls in allele frequency in rs6526806 except for other SNPs.CONCLUSION：There may have association between IL1RAPL1 gene and the male NSMR children of Han Chinese.And a further work should be done to verify the conclusion of this study using the more genetic markers of IL1RAPL1 in a larger sample.

关 键 词：NSMR IL1RAPL1基因 SNP 关联分析 

分 类 号：R394.3[医药卫生—医学遗传学]