家族性精神分裂症的定量性状与1号染色体的连锁分析

A linkage analysis of quantitative trait loci for familial schizophrenia on chromosome

目的 探讨家族性精神分裂症的定量性状位点与 1号染色体的分子遗传学关系。方法 在32个家族性精神分裂症家系中 ,选择以下量表对精神分裂症患者的性状进行定量 ,包括 :阳性和阴性综合征量表、功能全面评定量表、病前分裂样和分裂型特质量表、病前社会适应量表 ,结合 1号染色体上 2 9个DNA多态标记位点的扫描数据 ,进行数量性状的遗传分析。结果 精神分裂症的阴性症状在 14 7.6 4 c M位置得到最大 Trad H- E L od值为 1.73、最大 EH H- E L od值为 1.6 5 ,此区域与质量性状连锁分析在 1q2 1- 2 3的峰值区域重叠。结论 提示精神分裂症阴性症状在 1q2 1- 2

Objective To explore the molecular genetic relationship between chromosome 1 and quantitative trait loci for familial schizophrenia. Methods A series of assessment scales included positive and negative syndrome scale (PANSS), global assessment of functional scale (GAFS), premorbid schizoid and schizotypal traits scale (PSST), premorbid social adjustment scale (PSA) were applied to quantify the phenotypes of schizophrenia. Non parametric linkage analysis of quantitative traits was conducted in 32 multiplex pedigrees with schizophrenia by using 29 microsatellite makers on chromosome 1. Results Haseman Elston quantitative trait analysis detected a maximum Traditional H E Lods of 1.73 and a maximum EH H E Lods of 1.65 of negative symptoms (PANSS N) at 147.64 cM, which was overlapped to the positive region of 1q21 23 in qualitative linkage analysis. Conclusion The results suggest there might be an independent quantitative trait locus of negative symptoms on 1q21 23 for familial schizophrenia.