GENOME ANALYSIS

基因组分析核心为DNA测序、基因分型和基因分析提供服务和建议 表情分析。DNA测序服务有助于帮助科学家确定 导致某些癌症或人类疾病的生殖系或体细胞基因的致病突变。脱氧核糖核酸 测序服务也被用来询问基因的甲基化状态。杂合性丢失 (LOH)和遗传连锁分析用于识别基因组中可能涉及的区域 恶性肿瘤的发生和发展。Core在执行微型卫星方面拥有丰富的经验 在3700平台上进行单碱基延伸SNP基因分型和TaqMan等位基因分型 为了这些目的，在7900HT平台上打字。测序能力也用于确定 癌症易感基因的一个等位基因是否存在外显子大小的缺失 已确定不存在点突变。对于这些研究，测序仪被用来分析 多重可扩增探针杂交(MAPH)或多重产生的荧光片段 连接依赖的探针扩增(MLPA)和谱型技术。核心的一个主要关注点 服务是在7900HT平台上使用定量实时聚合酶链式反应(Q-PCR)。使用一大批 TaqMan分析，Core提供DNA拷贝数测量和mRNA表达服务 分析，以及为癌症中心成员学习Q-PCR技术的培训课程。 癌症中心基因组分析核心致力于改善癌症中心成员获得基因的机会 和基因组技术。我们提供或建议开发的服务将积极与 加州大学旧金山分校基因组学的其他核心设施，以避免有害的重复产能。例如，癌症 中心成员可以获得广泛的高通量基因表达和基因分型技术 (Affymetrix和Illumina)通过加州大学旧金山分校帕纳苏斯和任务湾校区的核心设施。

The Genome Analysis Core provides services and advice for DNA sequencing, genotyping, and gene expression analysis. The DNA sequencing services are instrumental in helping scientists determine causative mutations in the germline or somatic genes which lead to certain cancers or human diseases. DNA sequencing services are also used to interrogate the methylation status of genes. Loss of heterozygosity (LOH) and genetic linkage analyses are used for identifying regions of the genome likely to be involved in the occurrence and progression of malignancies. The Core has extensive experience performing micrbsatellite and single base extension SNP genotyping on the 3700 platform, and TaqMan allelic discrimination SNP typing on the 7900HT platform for these purposes. The sequencing capability is also used to determine whether there are exon-sized deletions in one allele of a cancer susceptibility gene once it has been determined that there are no point mutations. For these studies, the sequencer is used to analyze fluorescent fragments generated by the Multiplex Amplifiable Probe Hybridization (MAPH) or Multiplex Ligation-dependent Probe Amplification (MLPA), and Spectratyping techniques. A major focus of the Core's services is the use of quantitative real-time PCR (Q-PCR) on the 7900HT platform. Using an arsenal of TaqMan assays, the Core provides services for DNA copy number measurements and mRNA expression analyses, plus training courses for members of the Cancer Center to learn Q-PCR techniques. The Cancer Center Genome Analysis Core works to improve access of Cancer Center member to genetic and genomic technologies. The services from we offer, or propose to develop, are actively coordinated with the other UCSF genomics core facilities to avoid detrimental duplication of capacity. For example, Cancer Center members have access to extensive high throughput gene expression and genotyping technology (Affymetrix and Illumina) through core facilities at the Parnassus and Mission Bay campuses of UCSF.