山东省孤独症全基因组扫描研究  

Genome-wide association study of autism in Shandong Province

作　　者：杨树林[1] 杨帆[2] 翟静[3] 刘金同[3] 张燕[3] 陈刚[4] 

机构地区：[1]泰山医学院公共卫生学院临床微生物学教研室,山东泰安271016 [2]泰山医学院附属医院病理科,山东泰安271000 [3]山东省精神卫生中心儿童少年心理科,山东济南250014 [4]山东省医学科学院基础医学研究所遗传学实验室,山东济南250062

出　　处：《山东大学学报（医学版）》2014年第11期92-96,共5页Journal of Shandong University:Health Sciences

基　　金：山东省自然科学基金青年基金(ZR2010HQ051)

摘　　要：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 investigate the genetic loci associated with autism in the population of Shandong Province. Methods Linkage Mapping Set 2.5 including 400 microsatellite markers was used to screen 3 separated DNA pooling samples consisting of 38 autism children,their 75 parents and 1 000 normal controls.CLUMP and SPSS12.0 software were adopted for statistic analysis to compare the difference in allele frequency of each locus between autism children and controls,autism children and parents respectively.Results Significant differences in allele frequency were found at 1p36.31,4q13.3,4q35.1 and 7p21.3.Conclusion Genetic loci 1p36.31,4q13.3,4q35.1 and 7p21.3 are detec-ted to be associated with autism in the population of Shandong Province,and susceptibility genes may be located around these regions.

关 键 词：孤独症 基因组 DNA混合池 遗传 

分 类 号：R749.94[医药卫生—神经病学与精神病学]