摘要
目的探讨精神发育迟滞相关基因（IL1RAPL1）对人类精神运动功能的影响，为精神运动功能障碍对亚克汀病诊断的有效性提供证据。方法采用传统PCR、单链构象多态PCR（PCR—SSCP）、聚丙烯酰胺凝胶电泳等分子生物学方法，对秦巴山区220名7～14岁儿童IL1RAPL1基因的DXS1218、DXS9896、rs6526806，rs12847959共4个遗传标记位点进行多态性检测，并进行精神运动功能测验，对多态性检测结果与儿童精神运动功能测验成绩进行关联分析。结果DXS1218、DXS9896、rs128479593个遗传标记在受检儿童中均有较高杂合度（Het），分别为0．8941、0．8674、0．4872，rs6526806有较低的Het，为0．1804；4个遗传标记多态性均未显示出与儿童精神运动功能的相关性（F值分别为0．909、0．279、0．725、1．982，P均〉0．05）。结论IL1RAPL1基因多态性对人的精神运动控制能力无影响，即精神运动功能可能较少受遗传因素影响，是对亚克汀病诊断更为有效的一个辅助指标。
Objective To investigate the effect of mental retardation related gene on psychomotor function, thereby offering the evidence for availability of psychomotor function disability to sub-cretin diagnosis. Methods Four genetic marker sites, i.e., DXS1218, DXS9896, rs6526806 and rs12847959 on interleukin 1 receptor accessory protein-like, gene 1 （IL1RAPL1） were genotyped by PCR, PCR-SSCP and PAGE for 220 Qinba mountain area children aged 7 - 14. Meanwhile, a psychomotor function test was performed to study their relationship. Results DXS1218, DXS9896 and rs12847959 of IL1RAPL1 gene had high heterozygosis degree （Her） in the children. The Het was 0.8941,0.8674,0.4872, respectively. The rs6526806 showed lower heterozygosis degree （Her = 0.1804）. The DXS1218, DXS9896, rs6526806 and rs12847959 did not correlate with children＇s psychomotor function（F = 0.909,0.279,0.725,1.982, all P 〉 0.05）. Conclusions IL1RAPL1 gene polymorphism does not affect human psychomotor controlling ability. Maybe psychomotor function is less affected by genetic factor, thereby it is a available assistant index for sub-cretin diagnosis.
出处
《中国地方病学杂志》
CAS
CSCD
北大核心
2009年第6期615-618,共4页
Chinese Jouranl of Endemiology
基金
国家自然科学基金（30470577、30771182）：陕西省科学技术研究发展计划项目（2007K01-25）
关键词
精神运动性行为
IL1RAPL1基因
基因多态性
Psychomotor performance
lnterleukin 1 receptor accessory protein-like, gene 1
Gene polymorphism
