CORE--CELL CULTURE, DNA AND MAPPING

（改编自申请人摘要）该核心将为本SCOR的项目和核心提供细胞培养、DNA分离和制图支持。该核心的日常活动将包括以下内容。该中心将从先天性心脏缺陷患者身上建立淋巴母细胞样细胞系；从已建立的细胞系、血斑或颊拭子中分离DNA；通过PCR对conotruncal异常患者进行22q11.2缺失预筛查；FISH在高危患者中验证22q11.2缺失，直到项目1开发出定量PCR检测；PCR法评估双亲本遗传状况；通过对一组体细胞杂交dna进行PCR或Southern杂交分析，将新鉴定的人类dna定位到各自的染色体上；通过FISH对新的人类cdna进行区域定位；利用Jackson实验室Backcross DNA作图资源，将新鉴定的小鼠cdna定位到各自的小鼠染色体上；并利用已发表的YAC图谱和来自现场资源的BAC/PAC克隆，提供CEPH YAC文库中的大基因组DNA片段。

(Adapted from the Applicant's Abstract) This core will provide the cell culture, DNA isolation and mapping support for the projects and cores in this SCOR. The routine activities of this core will include the following. The core will establish lymphoblastoid cell lines from patients with congenital heart defects; isolate DNA from established cell lines, blood spots or cheek swabs; pre-screen patients with conotruncal anomalies for a 22q11.2 deletion by PCR; FISH verify 22q11.2 deletions in at-risk patients until a quantitative PCR assay is developed by Project 1; assess biparental inheritance status by PCR; map newly identified human cDNAs to their respective chromosome by PCR or Southern hybridization analysis of a panel of somatic cell hybrid DNAs; regionally localize new human cDNAs by FISH; map newly identified mouse cDNAs to their respective mouse chromosome by utilization of the Jackson Laboratory Backcross DNA Mapping Resource; and provide access to large genomic fragments of DNA from the CEPH YAC library utilizing published YAC maps and BAC/PAC clones from on-site resources.