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GENE DOSAGE IN THE ETIOLOGY OF MULTIPLE CONGENITAL ANOMALIES

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：
$0.0万
依托单位：
NATIONAL HUMAN GENOME RESEARCH INSTITUTE
依托单位国家：
美国
项目类别：
财政年份：
--
资助国家：
美国
项目状态：
未结题
起止时间：
至
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

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中文摘要
翻译
我们已经收集了200多个核心家庭 (母亲、父亲和孩子)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 检测亚微观复制和缺失。分析了几个问题 标本是不完整的，尽管我们已经发现了 异常数量。通过微卫星标记筛选， 我们发现了五种未被检测到的染色体异常 通过显微技术。这项研究已经结束，不会有进一步的收益。 去年允许完成目前的分析 标本。
英文摘要
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.
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