GENE DOSAGE IN THE ETIOLOGY OF MULTIPLE CONGENITAL ANOMALIES

多种先天性异常病因中的基因剂量

• 批准号: 6108969
• 负责人: LESLIE G BIESECKER
• 金额: --
• 依托单位: NATIONAL HUMAN GENOME RESEARCH INSTITUTE
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/6108969
• 关键词: child (0-11); chromosome deletion; clinical research; comorbidity; congenital disorders; cytogenetics; family genetics; gene dosage; gene duplication; gene expression; genetic disorder; genetic markers; human genetic material tag; human subject; human tissue; pathologic process; polymerase chain reaction; syndrome

We have collected over 200 nuclear families (mother, father and Child) with undiagnosed multiple congenital anomaly syndrome. Our approach is to use molecular techniques to detect submicroscopic duplications and deletions. The analysis of the specimens is incomplete although we have already found a number of abnormalities.By screening with microsatellite markers, we have found five chromosomal aberrations that were not detected by microscopic techniques. The study was closed to further accrual last year to allow completion of the analysis of the current specimens.

我们收集了200多个核心家庭 （母亲，父亲和孩子）患有未确诊的多发性先天性 异常综合征我们的方法是利用分子技术 检测亚显微镜下的复制和缺失。分析 标本是不完整的，虽然我们已经发现了一个 通过微卫星标记的筛选， 我们发现了五个染色体畸变 通过显微技术。该研究已关闭，以进一步增加 以完成对目前情况的分析， 标本