CLEFT LIP GENETICS: A MULTICENTER INTERNATIONAL CONSORTIUM

唇裂遗传学：多中心国际联盟

• 批准号: 7379394
• 负责人: ANNE V HING
• 金额: $ 2.4万
• 依托单位: UNIVERSITY OF WASHINGTON
• 依托单位国家: 美国
• 财政年份: 2006
• 资助国家: 美国
• 起止时间: 2006-04-01 至 2007-03-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7379394
• 关键词: CLEFT; LIP; GENETICS; MULTICENTER; INTERNATIONAL

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. The goal of this multicenter international study is to determine the cause(s) of nonsyndromic cleft lip and palate. Our center's role has been to recruit multiplex families (with two or more family members with cleft lip and/or palate) and trios (a single affected child and both unaffected parents), obtain medical and pregnancy history, and DNA samples for genetic studies. The blood sample is sent to Dr. Lidral's laboratory at the University of Iowa for DNA extraction and genotyping studies. Samples from the multiplex families will be incorporated into genome-wide screens to identify chromosomal regions containing a gene important in cleft lip/palate formation. Samples from trios will be used for linkage dysequilibrium studies to demonstrate which chromosome regions are important to clefting. Our goals include the recruitment of 20-30 multiplex families and 30-40 trios per year.

该子项目是利用NIH/NCRR资助的中心赠款提供的资源的许多研究子项目之一。子弹和调查员（PI）可能已经从其他NIH来源获得了主要资金，因此可以在其他清晰的条目中代表。列出的机构适用于该中心，这不一定是调查员的机构。这项多中心国际研究的目的是确定非蛋白质裂唇和口感的原因。我们中心的作用是招募多重家族（有两个或更多的家庭成员患有嘴唇和/或pape裂）和三重奏（一个受影响的孩子，都是未受影响的父母），获得医疗和怀孕史，以及DNA样本进行遗传研究。血液样本被发送给爱荷华大学Lidral博士的实验室进行DNA提取和基因分型研究。来自多重家族的样品将被纳入全基因组筛查中，以鉴定包含在lip/paple形成中重要的基因的染色体区域。来自Trio的样品将用于连锁Dysequilibrium研究，以证明哪些染色体区域对cle曲很重要。我们的目标包括每年招募20-30个多重家族和30-40个三重奏。