Iwase Toshio, Kajimura Naofumi, Uchiyama Makoto, Ebisawa Takashi, Yoshimura Kimio, Kamei Yuichi, Shibui Kayo, Kim Keiko, Kudo Yoshinao, Katoh Masaaki, Watanabe Tsuyoshi, Nakajima Toru, Ozeki Yuji, Sugishita Mariko, Hori Toru, Ikeda Masaaki, Toyoshima Ryoichi, Inoue Yuichi, Yamada Naoto, Mishima Kazuo, Nomura Masahiko, Ozaki Norio, Okawa Masako, Takahashi Kiyohisa, Yamauchi Toshio
Department of Neuropsychiatry, Saitama Medical School, 38 Morohongo, Moroyama-cho, Iruma-gun, 350-0495, Japan.
Psychiatry Res. 2002 Mar 15;109(2):121-8. doi: 10.1016/s0165-1781(02)00006-9.
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 3111C 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.
我们测试了人类生物钟（hClock）基因（昼夜节律振荡器的重要组成部分之一）是否与延迟睡眠相位综合征（DSPS）和非24小时睡眠-觉醒综合征（N-24）的易感性有关。通过PCR扩增对hClock基因的整个编码区进行筛查，发现了三种多态性，其中两种预测会导致氨基酸替换R533Q和H542R。DSPS或N-24患者中R533Q和H542R等位基因的频率非常低，与对照组相比无显著差异。还研究了hClock基因3'-非翻译区的一个T3111C多态性，据报道该多态性与活动的晨型或夜型偏好有关；结果显示，DSPS患者中3111C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的发病中起重要作用。T3111C多态性对DSPS易感性的可能贡献应进一步研究。
