在一个家庭中,平衡的自体转位与严重精神疾病的关联
D St Clair1, D Blackwood, W Muir
1Department of Psychiatry, University of Edinburgh, Royal Edinburgh Hospital, UK.
Lancet (London, England)
|July 7, 1990
概括
研究人员确定了与大家庭精神疾病相关的平衡转位t(1:11). 这表明11号染色体.
科学领域:
- 遗传学 是一个遗传学.
- 精神病学是一个精神病学.
- 人类遗传学 人类遗传学
背景情况:
- 家庭自体异常常常与精神疾病有关.
- 以前的研究表明,各种精神疾病的遗传成分.
研究的目的:
- 调查自体异常和精神疾病之间的潜在遗传联系.
- 为了确定与主要精神障碍相关的特定染色体区域.
主要方法:
- 检查了282个来自MRC细胞遗传学注册表的家族自体异常和精神疾病的血统.
- 对77个家族成员进行了细胞遗传学分析,这些家族成员具有表现出精神和/或行为障碍的大量血统.
- 计算了lod分数以评估平衡转位t(1:11) 与精神病诊断之间的联系.
主要成果:
- 一个大型血统显示了23例精神/行为障碍病例.
- 在分析的77名家庭成员中,有34人携带平衡转移t{\displaystyle t}{\displaystyle t}{1}{\displaystyle t}{1}{\displaystyle t}{1}{\displaystyle t}{1}{\displaystyle t}{1}{\displaystyle t}{1}{\displaystyle t}{1}{\displaystyle t}{1}{1}{\displaystyle t}{1}{1}{1}{1}{1}{1}{1}{1}{1}{1}{1}{1}{1}{1}{1}{1}{1}{1}{1}{1}{1}{1}{1}{1}{1}{1}{1}{1}{1}{1}{1}{1}{1}{1}{1}{1}{1}{1}}{1}{1}}{1}{1}}{1}}{1}}{1}{1}}{1}}{1}}}}}{1}}}}
- 与没有转移的家庭成员相比,在转移的家庭成员中观察到精神病诊断的更高患病率 (16vs5).
结论:
- 均衡转位t(1:11) (q43,q21) 与这个家族的精神疾病有很强的联系.
- 染色体11的q21-22区域是导致主要精神疾病的基因潜在区域.
- 需要进一步的研究来探索这种染色体区域中精神障碍的遗传基础.
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