Mutation screening of the human Clock gene in circadian rhythm sleep disorders
Mutation screening of the human Clock gene in circadian rhythm sleep disorders
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DOI：
10.1016/s0165-1781(02)00006-9
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发表时间：
2002-03-15
影响因子：
11.3
通讯作者：
Yamauchi, T
中科院分区：
文献类型：
--
作者：
Iwase, T;Kajimura, N;Yamauchi, T
我们测试了人类时钟（hClock）基因，昼夜节律振荡器的重要组成部分之一，是否与睡眠相位延迟综合征（DSPS）和非24小时睡眠-觉醒综合征（N-24）的脆弱性有关。在整个编码区的hClock基因的PCR扩增筛选发现三个多态性，其中两个预测的氨基酸取代R533 Q和H542 R。DSPS和N-24患者的R533 Q和H542 R等位基因频率非常低，与对照组无显著差异。还研究了hClock 3 '-非翻译区的T3111 C多态性，据报道，该多态性与早晨或晚上的活动偏好相关;结果显示，DSPS中3111 C等位基因频率降低。hClock基因编码区的多态性不太可能在DSPS或N-24的发展中发挥重要作用。T3111 C多态性对DSPS易感性的可能贡献有待进一步研究。(C)2002爱思唯尔科学爱尔兰有限公司保留所有权利。
We tested whether the human Clock (hClock) gene, one of the essential components of the circadian oscillator, is implicated in the vulnerability to delayed sleep phase syndrome (DSPS) and non-24-hour sleep-wake syndrome (N-24). Screening in the entire coding region of the hClock gene with PCR amplification revealed three polymorphisms, of which two predicted the amino acid substitutions R533Q and H542R. The frequencies of the R533Q and H542R alleles in patients with DSPS or N-24 were very low and not significantly different from those in control subjects. A T3111C polymorphism in the 3'-untranslated region of hClock, which had been reportedly associated with morning or evening preference for activity, was also investigated; the results showed that the 3111 C allele frequency decreased in DSPS. Polymorphisms in the coding region of the hClock gene are unlikely to play an important role in the development of DSPS or N-24. The possible contribution of the T3111C polymorphism to DSPS susceptibility should be studied further. (C) 2002 Elsevier Science Ireland Ltd. All rights reserved.