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中国精神分裂症患者家庭中的遗传早现研究。

Study of anticipation in Chinese families with schizophrenia.

作者信息

Lin C H, Tsai S J, Yu Y W, Yang K H, Hsu C P, Hong C J

机构信息

Kai-Suan Psychiatric Hospital, Kaohsiung, Division of Psychiatry, School of Medicine, National Yang-Ming University, Taipei, Taiwan, ROC.

出版信息

Psychiatry Clin Neurosci. 2001 Apr;55(2):137-40. doi: 10.1046/j.1440-1819.2001.00801.x.

Abstract

The anticipation phenomenon is an important aspect in several genetic disorders in which the age at onset (AAO) decreases and the severity of illness increases in successive generations. This phenomenon has been reported in several schizophrenic family studies, and expanded repeat mutations are implicated. In the present study, we investigate the anticipation phenomenon in Chinese schizophrenic families. We compare the AAO between two generations of 38 unilinear schizophrenic families. Intergenerational comparisons show that the AAO was significantly earlier in the offspring generation (mean AAO, 22.2 years) than that in the parental generation (mean AAO, 31.0 years) (P < 0.001). When only including the offspring generation who married, the AAO difference between the two generations was not significant (28.4 years vs 31.0 years, P = 0.151). Our findings suggest that a selection bias in the parental group might greatly impact the study of anticipation in schizophrenia. Other unavoidable biases associated with these analyses are discussed in the text.

摘要

遗传早现现象是几种遗传性疾病的一个重要方面,在这些疾病中,发病年龄(AAO)逐代降低,疾病严重程度逐代增加。这种现象在多项精神分裂症家族研究中已有报道,并且与扩展重复突变有关。在本研究中,我们调查了中国精神分裂症家族中的遗传早现现象。我们比较了38个单系精神分裂症家族两代人的发病年龄。代际比较显示,后代一代的发病年龄(平均发病年龄22.2岁)显著早于亲代一代(平均发病年龄31.0岁)(P < 0.001)。当仅纳入已婚的后代一代时,两代之间的发病年龄差异不显著(28.4岁对31.0岁,P = 0.151)。我们的研究结果表明,亲代组中的选择偏倚可能会极大地影响精神分裂症遗传早现的研究。文中讨论了与这些分析相关的其他不可避免的偏倚。

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