Microarray comparative genomic hybridization analysis of 59 patients with schizophrenia
Microarray comparative genomic hybridization analysis of 59 patients with schizophrenia
复制标题
DOI：
10.1007/s10038-008-0327-6
复制
发表时间：
2008-10-01
影响因子：
3.5
通讯作者：
Matsumoto, Naomichi
中科院分区：
文献类型：
--
作者：
Mizuguchi, Takeshi;Hashimoto, Ryota;Matsumoto, Naomichi
精神分裂症是一种常见的精神疾病，具有很强的遗传因素。这种情况下与疾病相关的染色体异常可能提供重要线索，例如 DISC1。在这项研究中，使用定制细菌人工染色体 (BAC) 微阵列（4,219 个 BAC，分辨率为 0.7 Mb）通过微阵列比较基因组杂交 (CGH) 对 59 名精神分裂症患者进行了分析。 6 名患者 (10%) 发现染色体异常：46,XY,der(13)t(12;13)(p12.1; p11).ish del(5)(p11p12); 46、XY，是德尔（17）（p12p12）； 46、XX.ish dup(11)(p13p13); 46，X，idic(Y)(q11.2)；在两种情况下，mos 45,X/46XX。三例病例中的常染色体异常可能具有致病性，三例中的性染色体异常遵循之前的发现。值得注意的是，10%的精神分裂症患者存在（亚）显微染色体异常，这表明在精神分裂症的遗传学研究中应考虑进行全基因组拷贝数调查。
Schizophrenia is a common psychiatric disorder with a strong genetic contribution. Disease-associated chromosomal abnormalities in this condition may provide important clues, such as DISC1. In this study, 59 schizophrenia patients were analyzed by microarray comparative genomic hybridization (CGH) using custom bacterial artificial chromosome (BAC) microarray (4,219 BACs with 0.7-Mb resolution). Chromosomal abnormalities were found in six patients (10%): 46,XY,der(13)t(12;13)(p12.1; p11).ish del(5)(p11p12); 46,XY, ish del(17)(p12p12); 46,XX.ish dup(11)(p13p13); and 46,X,idic(Y)(q11.2); and in two cases, mos 45,X/46XX. Autosomal abnormalities in three cases are likely to be pathogenic, and sex chromosome abnormalities in three follow previous findings. It is noteworthy that 10% of patients with schizophrenia have (sub)microscopic chromosomal abnormalities, indicating that genome-wide copy number survey should be considered in genetic studies of schizophrenia.