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目的通过全基因组扫描和关联分析,查找与孤独症相关联的遗传位点。方法选择美国应用生物系统公司(ABI)的Linkage Mapping Set 2.5套装试剂盒,用DNA混合池的方法对孤独症核心家系(患儿组与患儿父母组)和正常对照者(正常对照组)进行全基因组扫描;使用CLUMP软件和SPSS 12.0软件对等位基因频率进行比较。结果患儿组与正常对照组或患儿父母组在染色体1、4、7上的1p36.31、4q13.3、4q35.1、7p21.3区域的等位基因频率差异有统计学意义(P<0.01)。结论山东省人群孤独症患者在1p36.31(D1S214)、4q13.3(D4S392)、4q35.1(D4S1535)、7p21.3(D7S513)区域存在关联位点。
Objective To search for the genetic loci associated with autism by genome-wide scan and association analysis. Methods The Linkage Mapping Set 2.5 kit from Applied Biosystems (ABI) was used to test the autistic nuclear pedigrees (pediatric and pediatric parents) and normal controls (normal control) Genome-wide scanning; allele frequencies were compared using CLUMP software and SPSS 12.0 software. Results There was significant difference in allele frequency between 1p36.31, 4q13.3, 4q35.1 and 7p21.3 regions on the chromosome 1, 4 and 7 in the children group and the normal control group or the parental group (P <0.01). Conclusion There are related sites in the regions of 1p36.31 (D1S214), 4q13.3 (D4S392), 4q35.1 (D4S1535) and 7p21.3 (D7S513) in Shandong province.