Hwu H G, Lin M W, Lee P C, Lee S F, Ou-Yang W C, Liu C M
Department of Psychiatry, College of Medicine, National Taiwan University, Taipei, Taiwan.
Am J Med Genet. 2000 Feb 7;96(1):74-8.
Previous studies have indicated possible linkage of schizophrenia with chromosome 6p21-24. In an attempt to replicate these findings, we studied the linkage of schizophrenia with nine markers on chromosome 6p21-24 in 39 Taiwanese schizophrenic nuclear families with at least two affected siblings. Two diagnostic models (narrow: Diagnostic and Statistical Manual of Mental Disorders-IV schizophrenia only; and broad: including schizophrenia, schizoaffective, and other nonaffective psychotic disorders) were used to define the disease phenotypes. With the broad and narrow diagnostic models, the marker D6S296 produced maximum two-point lod scores of 1.46 (straight theta = 0.2) and 1.35 (straight theta = 0. 2), respectively, in the recessive inheritance model. Assuming locus heterogeneity, a multipoint lod score of 0.85 was obtained between markers D6S296 and D6S277 under the narrow/recessive model. Maximum nonparametric lod scores of 1.25 ( p= 0.09) and 1.36 (p = 0.08) were observed, but still not statistically significant, at D6S296 in the narrow and broad diagnostic models, respectively. Both two-point analysis of the dominant model (lod score 0.85) and nonparametric analysis (lod score 1.25) showed a mild peak lod score appeared at marker D6S 285 as well. The results add some support to the suggestive linkage of schizophrenia with markers in the regions of chromosome 6p22 and 6p24 in an ethnically distinct Taiwanese sample. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 96:74-78, 2000.
以往的研究表明精神分裂症可能与6号染色体的p21-24区域存在连锁关系。为了重复这些研究结果，我们在39个至少有两个患病同胞的台湾精神分裂症核心家庭中，研究了精神分裂症与6号染色体p21-24区域上9个标记的连锁关系。采用两种诊断模型（狭义：仅为《精神疾病诊断与统计手册》第四版中的精神分裂症；广义：包括精神分裂症、分裂情感性障碍及其他非情感性精神障碍）来定义疾病表型。在隐性遗传模型中，使用广义和狭义诊断模型时，标记D6S296分别产生了最大两点对数优势分数1.46（直接θ = 0.2）和1.35（直接θ = 0.2）。假设基因座异质性，在狭义/隐性模型下，标记D6S296和D6S277之间的多点对数优势分数为0.85。在狭义和广义诊断模型中，分别在D6S296处观察到最大非参数对数优势分数为1.25（p = 0.09）和1.36（p = 0.08），但仍无统计学意义。显性模型的两点分析（对数优势分数0.85）和非参数分析（对数优势分数1.25）均显示在标记D6S285处也出现了一个轻度的对数优势分数峰值。这些结果为在一个种族不同的台湾样本中精神分裂症与6号染色体p22和p24区域标记之间的提示性连锁关系提供了一些支持。《美国医学遗传学杂志》（神经精神遗传学）96:74 - 78，2000年。
