Riley B P, Lin M W, Mogudi-Carter M, Jenkins T, Williamson R, Powell J F, Collier D, Murray R
Department of Psychological Medicine, Institute of Psychiatry, London, UK.
Psychiatr Genet. 1998 Autumn;8(3):155-62. doi: 10.1097/00041444-199800830-00004.
Several recent reports have provided evidence suggesting linkage of markers on chromosome 13q14.1-q32 to schizophrenia in families from England, Wales, Japan and the USA, but not in Chinese families. We tested for linkage between markers in this region and schizophrenia in a sample of 16 families multiply affected with schizophrenia drawn from the Bantu-speaking black population of South Africa. Twelve markers spanning 76 cM of chromosome 13q were examined in these analyses, including 10 markers covering the most positive region in the studies of the English, Welsh and Chinese families, and two additional markers yielding the largest positive LOD scores in the American study. The map of markers used was D13S126-14.6cM-D13S119-12.2cM-D13S144-10.+ ++2cM-D13S160-7.9cM-D13S121-6.3cM -D13S71-1.6cM-D13S122- 4.9cM-D13S128-8.9cM-D13S770-1.4cM-D13S7 79-2.2cM-D13S64-7.4cM-D13S173. Parametric two-point analysis yields strongly negative LOD scores across the region D13S71-D13S64 under all models, and D13S71-D13S173 under a recessive model, when analysing either the whole sample or affected individuals only. ALOD maxima are 0.0 when allowing for heterogeneity for all markers in this subset. Under recessive modelling, the ALOD maximum is 0.717, theta = 0.0, alpha = 0.45, for D13S126 when analysing all samples. Affected-only analysis of this marker yields a maximum LOD score of 0.645, theta = 0.1, and an ALOD maximum of 0.697, theta = 0.0, alpha = 0.55. Non-parametric multipoint analysis of these markers provides no support for excess sharing of alleles identical by descent, although D13S119 and D13S770 show some evidence for excess sharing of alleles identical by state.
最近的几份报告提供了证据，表明位于13号染色体14.1 - q32区域的标记与来自英格兰、威尔士、日本和美国的家族性精神分裂症存在连锁关系，但在中国家族中却不存在这种关系。我们对来自南非讲班图语的黑人人群中16个精神分裂症多发家族的样本进行了该区域标记与精神分裂症之间连锁关系的检测。在这些分析中，检测了跨越13号染色体76厘摩（cM）的12个标记，其中包括在英国家族、威尔士家族和中国家族研究中最显著区域的10个标记，以及在美国研究中产生最大正对数优势（LOD）分数的另外2个标记。所使用的标记图谱为：D13S126 - 14.6厘摩 - D13S119 - 12.2厘摩 - D13S144 - 10. + + + 2厘摩 - D13S160 - 7.9厘摩 - D13S121 - 6.3厘摩 - D13S71 - 1.6厘摩 - D13S122 - 4.9厘摩 - D13S128 - 8.9厘摩 - D13S770 - 1.4厘摩 - D13S779 - 2.2厘摩 - D13S64 - 7.4厘摩 - D13S173。在分析整个样本或仅分析患病个体时，参数性两点分析在所有模型下，在D13S71 - D13S64区域以及隐性模型下的D13S71 - D13S173区域均产生强烈的负LOD分数。当考虑该子集中所有标记的异质性时，最大平均LOD（ALOD）值为0.0。在隐性模型下，分析所有样本时，D13S126的ALOD最大值为0.717，θ = 0.0，α = 0.45。仅对患病个体分析该标记时，最大LOD分数为0.645，θ = 0.1，ALOD最大值为0.697，θ = 0.0，α = 0.55。这些标记的非参数多点分析并未支持通过家系遗传共享相同等位基因的情况，尽管D13S119和D13S770显示出一些通过状态共享相同等位基因的证据。
