精神分裂症同胞家系的6号染色体基因组扫描研究

目的：通过对6号染色体进行候选区域的基因组扫描，探索精神分裂症的遗传易感基因。方法：以分布于6号染色体的28个微卫星标记在137个精神分裂症同胞家系样本中进行候选区域的基因扫描，采用受累同胞对分析方法，结合诊断分类，量表及必要的临床资料。通过GENEHUNTER ，MAPMAKER／SIBS等软件系统进行质量性状及数量性状的非参数连锁分析。结果：结合诊断分类的质量性状连锁分析未发现阳性结果。结合阳性和阴性症状量表（PANSS）的Haseman Elston数量性状连锁分析，结合PANSS－P分析所得最大Lod值为1．39，位于D6S1960附近，结合PANSS－G和PANSS－N所得最大Lod值分别为2．50和1．56，位于D6S291附近，变异因素数量性状分析与Haseman-Elason分析结果一致，即在相应的数量性状分析中，在D6S1960和D6S291附近，位点本身的遗传效应有明显作用的趋势。结论：6号染色体短臂可能存在精神分裂症的易感基因。

Susceptibility of schizophrenia on chromosome 6 in affected-sib-pair families

Objective To explore the genetic susceptibility of schizophrenia based on the linkage study between chromosome 6 and schizophrenia Methods Twenty eight microsatellite markers on chromosome 6 were evaluated in 137 Chinese affected sib pair families Both qualitative and quantitative nonparametric linkage analysis were performed And further analysis was conducted combined with diagnostic categories, Positive and Negative Syndrome Scale (PANSS) and other clinic data Results No positive result was found by the qualitative linkage analysis combined with diagnostic categories Quantitative linkage analysis of Haesmen Elston combined with PANSS_P produced the maximum lod score of 1 39 around D6S1960, combined with PANSS G and PANSS N the maximum lod score of 2 50 and 1 56 were obtained around D6S291 respectively Quantitative linkage analysis of variance component showed the same inclination as Haesman Elston Compared with other loci area, the areas around D6S1960 and D6S291 showed more inclination of genetic effect Conclusion The short arm of chromosome 6 may contain susceptibility genes of schizophrenia