首页|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

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

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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(Single Nudeotide Polymorphism,SNP)位点rsl2847959,rs6526806,rs6630762和rs1564643作为遗传标记,对秦巴山区儿童进行了病例一对照人群研究.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.
Association between IL1RAPL1 gene polymorphism and non-specific mental retardation in the Chinese Han population of Qinba region
AIM: To investigate the relationship between the variations of IL1RAPL1 and non-specific mental retardation (NSMR). METHODS: A case-controlassociation study was performed to focus on the Han children from Qinba region using four common SNPs in the gene ( rs1 2847959, 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 haveassociation 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 IL1ARAPL1 in a larger sample.

non-specific mental retardationIL1RAPL1 genesingle-nucleotide polymorphismassociation study

张淑苗、张科进、高晓彩、郑子健、李瑞林、韩宁、张富昌

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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

第四军医大学基础部生理学教研室,陕西西安710033

西北大学公共管理学院,应用心理学研究所,陕西西安710069

西安交通大学第二附属医院,陕西西安710004

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NSMR IL1RAPL1基因 SNP 关联分析

国家科技攻关项目陕西省科技攻关计划

2001BA901A492007K01-25

2009

第四军医大学学报
第四军医大学

第四军医大学学报

CSTPCDCSCD北大核心
影响因子:0.599
ISSN:1000-2790
年,卷(期):2009.30(23)
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