Molecular genetics of timing in intrinsic circadian rhythm sleep disorders.
Molecular genetics of timing in intrinsic circadian rhythm sleep disorders.
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内在昼夜节律睡眠障碍时间的分子遗传学。
DOI：
10.1080/078538902320772133
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发表时间：
2002
影响因子：
4.4
通讯作者：
Claridge-Chang,Adam
中科院分区：
文献类型：
--
作者：
Wijnen,Herman;Boothroyd,Catharine;Young,MichaelW;Claridge-Chang,Adam
昼夜节律生物学的最新进展是确定关键基因及其控制的分子时钟。这些生化系统为评估临床观察到的内在昼夜节律睡眠障碍提供了新的工具。一个引人注目的例子是去年发现的人类生物钟基因中产生睡眠阶段综合症的点突变。这一发现表明，其他内在的睡眠障碍可能有遗传基础，并且通过在更广泛的人群中对已知时钟基因进行分子筛选，可能会揭示睡眠/觉醒行为中不那么衰弱的变化。
Recent advances in circadian biology are identifying key genes and the molecular clockworks they command. These biochemical systems provide new tools for evaluating clinically observed, intrinsic circadian rhythm sleep disorders. A striking example was last year's discovery of a point mutation in a human clock gene that produces a sleep phase syndrome. This finding suggested that other intrinsic sleep disorders may have genetic underpinnings, and that less debilitating variations in sleep/wake behavior may be revealed by molecular screening of known clock genes in broader human populations.