Demirhan Osman, Taştemir Deniz
Faculty of Medicine, Department of Medical Biology and Genetics, Cukurova University, 01330, Balcali, Adana, Turkey.
Schizophr Res. 2003 Dec 1;65(1):1-7. doi: 10.1016/s0920-9964(02)00504-2.
Cytogenetic abnormalities with schizophrenia may provide a valuable clue to the identification of target loci and successful search for major genes. We have performed chromosomal examinations by using the GTG banding technique on 134 schizophrenics. In 43 patients (32%), random numerical and structural aberrations were detected. Structural aberrations predominated and usually consisted of deletions and inversion of various chromosomes. Numerical changes were present in one or two cells in 14 cases including trizomy 21, marker and acentric chromosomes, and 47,XXY. The seven cases with pericentric inversion and enlargement of the heterochromatin region of chromosome 9 (inv(9); 9qh+) were observed in the study. The incidence (5.2%) of inv(9) and 9qh+ in our schizophrenic patients were found higher than the general population, suggesting that a susceptibility locus for schizophrenia may be located at pericentromeric region of chromosome 9. Our study have detected 1q21, 7q23, inv(9), 9qh+, 11q23, 21q22, 22q11-13 and Xp11-q13 suggested that these chromosomal lesions are prevalent in schizophrenics. The reason for this might be that these anomalies increase risk for schizophrenia in a relatively nonspecific way, such as contributing to disruption of normal embryogenesis of the nervous system.
精神分裂症的细胞遗传学异常可能为识别目标基因座和成功寻找主要基因提供有价值的线索。我们运用GTG显带技术对134例精神分裂症患者进行了染色体检查。在43例患者（32%）中，检测到随机的数目和结构畸变。结构畸变占主导，通常包括各种染色体的缺失和倒位。14例患者的一个或两个细胞中出现了数目改变，包括21三体、标记染色体和无着丝粒染色体，以及47,XXY。本研究观察到7例9号染色体臂间倒位并伴有异染色质区扩大（inv(9); 9qh+）。我们发现精神分裂症患者中inv(9)和9qh+的发生率（5.2%）高于一般人群，提示精神分裂症的一个易感基因座可能位于9号染色体的着丝粒周围区域。我们的研究检测到1q21、7q23、inv(9)、9qh+、11q23、21q22、22q11 - 13和Xp11 - q13，表明这些染色体病变在精神分裂症患者中很普遍。其原因可能是这些异常以相对非特异性的方式增加了患精神分裂症的风险，比如导致神经系统正常胚胎发育的紊乱。
