Molecular Analysis Core

该中心将负责处理大规模的基因分型。该核心将负责所有候选基因的高通量基因分型和遗传作图。用于候选基因定位或关联研究的单个DNA样本的大规模基因分型将主要使用TaqMan测定法和ABI Prism 700HT单核苷酸多态性（snp）序列检测系统。在那些TaqMan不能令人满意地工作的情况下（5-10%），TaqMan基因分型试验将辅以寡核苷酸连接试验（OLA）。对于合并患者样本的高密度SNP频率映射，我们将使用引物延伸结合变性高效液相色谱（DHPLC）检测。私家侦探和调查人员将对自闭症患者进行生物取样、DNA库和基因分型。项目还将与本核心协商，确定哪些基因和snp需要进行基因分型。对于新的snp，基因型和等位基因频率数据将被建立数据库并报告给研究团体。对于特别感兴趣的基因，这个核心将提供必要的DNA测序。它还将负责在项目要求时获得血清素水平。

This Core will be responsible for handling the large-scale genotyping. This Core will be responsible for all the high-throughput genotyping of candidate genes and genetic mapping. Mass Genotyping of individual DNA samples for mapping or association studies of candidate genes will primarily use the TaqMan assay in conjunction with the ABI Prism 700HT Sequence Detection System for single nucleotide polymorphisms (SNPs). In those cases (5-10%) where TaqMan does not work satisfactorily the TaqMan genotyping assay will be supplemented with the Oligonucleotide Ligation Assay (OLA). For high-density SNP frequency mapping of pooled patient samples we will use primer extension in conjunction with denaturing high performance liquid chromatography (DHPLC) detection. The PI's and investigators will identify the autism patients for biological sampling, DNA banking, and genotyping. The Projects, in consultation with this Core, will also determine which genes and SNPs are to be genotyped. In the case of new SNPs, genotype and allele frequency data will be databased and reported to the research community. For genes of particular interest, this Core will provide the necessary DNA sequencing. It will also be responsible obtaining serotonin levels when requested by the Projects.