山东省孤独症7号染色体基因扫描研究

Mapping of autism loci on chromosome 7 by use of pooled DNA

目的对孤独症患者、其父母及正常对照者的7号染色体进行扫描,查找与孤独症关联的遗传位点。方法在7号染色体上间隔10cM遗传距离选择22个微卫星遗传位点,用DNA混合池的方法对38例孤独症患者、75例患者父母和1000例正常对照者的DNA样本进行基因扫描。采用CLUMP软件和SPSS10.0对患者组、父母组以及对照组每个位点的等位基因频率进行比较。结果在D7S513位点(7p21.3)发现患者组与对照组的等位基因频率存在显著性差异(P<0.01)。结论山东省孤独症患者在7号染色体的D7S513位点存在关联,需要在其附近进行易感基因筛查。

Objective To find out the genetic loci associated with autism on chromosome 7 in autism children of Shandong province. Methods A total of 22 microsatellite markers on chromosome 7 spaced at approximately 10 cM were used in screening of three separated DNA pooling samples consisting of 38 autism children, their 75 parents and 1000 normal controls. Statistic analysis was performed by CLUMP and SPSS 10.0 software to compare the difference in allele frequency of each locus between children and parents, children and controls respectively. Result Significant differences in allele frequency were found at D7S513 between children and controls（P 〈0.01）. Conclusion On chromosome 7, D7S513 would be associated with autism children of Shandong province,and susceptibility genes around these regions should be further studied.