Li T, Vallada H P, Liu X, Xie T, Tang X, Zhao J, O'Donovan M C, Murray R M, Sham P C, Collier D A
Department of Psychological Medicine, Institute of Psychiatry, London, United Kingdom.
Biol Psychiatry. 1998 Dec 1;44(11):1160-5. doi: 10.1016/s0006-3223(97)00492-7.
Family studies of schizophrenia and bipolar affective disorder provide evidence for genetic anticipation, which (in common with a number of mendelian disorders), may be caused by triplet repeat expansion. This hypothesis is strengthened by evidence from repeat expansion detection (RED) analysis revealing association between the psychoses and long CAG/CTG trinucleotide repeats.
We performed RED on Han Chinese subjects with schizophrenia (82), bipolar affective disorder (43), and normal controls (61), using a CTG10 oligonucleotide.
Comparison between cases and controls revealed no significant association between long repeats and affected status. We also found no detectable association with age at onset and repeat length in either bipolar affective disorder or schizophrenia. Overall, the size distribution of CAG/CTG repeats in Chinese subjects was not significantly different from those reported previously for Caucasian subjects.
These findings indicate that CAG/CTG repeat expansion is not likely to be a major etiological factor for psychosis in Chinese populations.
精神分裂症和双相情感障碍的家系研究为遗传早现提供了证据,遗传早现(与许多孟德尔疾病一样)可能由三联体重复序列扩增引起。重复序列扩增检测(RED)分析的证据显示精神病与长CAG/CTG三核苷酸重复序列之间存在关联,这一假说因此得到了强化。
我们使用CTG10寡核苷酸对患有精神分裂症的汉族受试者(82例)、双相情感障碍患者(43例)和正常对照者(61例)进行了RED分析。
病例组与对照组之间的比较显示,长重复序列与患病状态之间无显著关联。我们还发现,在双相情感障碍或精神分裂症中,发病年龄与重复序列长度之间均未发现可检测到的关联。总体而言,中国受试者中CAG/CTG重复序列的大小分布与先前报道的白种人受试者没有显著差异。
这些发现表明,CAG/CTG重复序列扩增不太可能是中国人群中精神病的主要病因。