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: 6290284
• 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/6290284
• 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. - clinical research, genetics, mental retardation, pediatric research - Human Subjects & Human Subjects: Interview, Questionaires, or Surveys Only

我们收集了200多个核心家庭（母亲，父亲和孩子）与未确诊的多发性先天性异常综合征。我们的方法是使用分子技术来检测亚显微镜下的复制和缺失。尽管我们已经发现了一些异常，但对标本的分析还不完整。通过微卫星标记筛选，我们发现了5个显微镜技术未检测到的染色体畸变。该研究于去年关闭，以进一步增加，从而完成对当前标本的分析。- 临床研究、遗传学、智力迟钝、儿科研究-人类受试者和人类受试者：仅访谈、问卷调查或调查