Department of Psychology, Stellenbosch University, South Africa.
S Afr Med J. 2012 Feb 23;102(3 Pt 1):165-6. doi: 10.7196/samj.5326.
Chromosome 22q11 aberrations substantially increase the risk for developing schizophrenia. Although micro-deletions in this region have been extensively investigated in different populations across the world, little is known of their prevalence in African subjects with schizophrenia. We screened 110 African Xhosa-speaking participants with schizophrenia for the presence of micro-deletions. As further verification for the presence or absence of 22q11 microdeletions, we screened 238 Xhosa schizophrenia patients and 240 healthy Xhosa individuals from a larger schizophrenia candidate 22q11 gene study using molecular analyses. Data from molecular and cytogenetic analyses confirmed the absence of 22q11 microdeletions in the Xhosa schizophrenia samples. Although the absence of chromosome 22q11 micro-deletions in this group of patients does not exclude the possibility that it may occur in Xhosa schizophrenia patients, we concluded an extremely low prevalence. Our findings suggest that unique susceptibility loci may be present in this group.
22q11 染色体异常显著增加了患精神分裂症的风险。虽然该区域的微缺失已在世界各地的不同人群中进行了广泛研究，但在非洲精神分裂症患者中的患病率却知之甚少。我们筛查了 110 名讲科萨语的非洲精神分裂症患者，以确定是否存在微缺失。为了进一步验证 22q11 微缺失的存在或缺失，我们使用分子分析方法对来自更大的 22q11 候选基因研究的 238 名科萨语精神分裂症患者和 240 名健康的科萨语个体进行了筛查。分子和细胞遗传学分析的数据证实了科萨语精神分裂症样本中不存在 22q11 微缺失。尽管该组患者中不存在染色体 22q11 微缺失，但并不能排除其在科萨语精神分裂症患者中发生的可能性，我们推断其患病率极低。我们的研究结果表明，该人群可能存在独特的易感基因座。
