Demirhan Osman, Tastemir Deniz, Sertdemir Yasar
Department of Medical Biology and Genetics, Faculty of Medicine, Cukurova University, Balcali-Adana, Turkey.
Yonsei Med J. 2009 Feb 28;50(1):137-41. doi: 10.3349/ymj.2009.50.1.137. Epub 2008 Feb 24.
Genetic factors are known to be important in the etiology of bipolar disorder (BD). The fragile sites (FSs) are a very interesting subject for the study of clinical disorders. The aim of this study was to evaluate fragile sites seen in patients with bipolar disorder and find a correlation between some fragile sites and bipolar disorder.
The frequencies of folate sensitive FSs were compared in short-term whole blood cultures from bipolar patients and from normal individuals.
The rate of FS expression in the patients was considerably higher than in the controls (p < 0.001). Several chromosome regions including 1p36, 1q21, 1q32, 3p25, 7q22, 7q32, 11q23, 12q24, 13q32, 14q24, Xp22 and Xq26 were represented considerably more often in the patients than in the controls (p value between 0.001 to 0.036). Among these FSs, the sites 1p36, 1q21, 3p25, 7q22, 7q32, and 14q24 were not observed in other studies.
These regions can be the most active of hot spots in the genomes of bipolar patients, and may harbor important genes associated with BD.
已知遗传因素在双相情感障碍(BD)的病因学中很重要。脆性位点(FSs)是临床疾病研究中一个非常有趣的课题。本研究的目的是评估双相情感障碍患者中观察到的脆性位点,并找出某些脆性位点与双相情感障碍之间的相关性。
比较双相情感障碍患者和正常个体短期全血培养物中叶酸敏感FSs的频率。
患者中FS表达率显著高于对照组(p < 0.001)。包括1p36、1q21、1q32、3p25、7q22、7q32、11q23、12q24、13q32、14q24、Xp22和Xq26在内的几个染色体区域在患者中出现的频率显著高于对照组(p值在0.001至0.036之间)。在这些FSs中,1p36、1q21、3p25、7q22、7q32和14q24位点在其他研究中未被观察到。
这些区域可能是双相情感障碍患者基因组中最活跃的热点,可能含有与BD相关的重要基因。