CLEFT LIP GENETICS: A MULTICENTER INTERNATIONAL CONSORTIUM

唇裂遗传学：多中心国际联盟

• 批准号: 7603519
• 负责人: ANNE V HING
• 金额: $ 1.04万
• 依托单位: UNIVERSITY OF WASHINGTON
• 依托单位国家: 美国
• 财政年份: 2007
• 资助国家: 美国
• 起止时间: 2007-04-01 至 2007-09-16
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7603519
• 关键词: Affect; Blood specimen; Child; Chromosomes; Cleft Lip; Computer Retrieval of Information on Scientific Projects Database; DNA; Family; Family member; Funding; Genes; Genetic; Genome; Genotype; Goals; Grant; Institution; International; Iowa; Laboratories; Medical; Palate; Parents; Pregnancy Histories; Recruitment Activity; Research; Research Personnel; Resources; Role; Sampling; Source; United States National Institutes of Health; Universities; cleft lip and palate

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.

这个子项目是许多利用 由NIH/NCRR资助的中心赠款提供的资源。子项目和 研究者（PI）可能从另一个NIH来源获得了主要资金， 因此可以在其他CRISP条目中表示。所列机构为 研究中心，而研究中心不一定是研究者所在的机构。 这项多中心国际研究的目的是确定非综合征性唇腭裂的病因。 我们中心的作用是招募多个家庭（有两个或更多的家庭成员患有唇腭裂和/或腭裂）和三人组（一个受影响的孩子和两个未受影响的父母），获得医疗和怀孕史，以及遗传研究的DNA样本。 血液样本被送到利德拉尔博士在爱荷华州大学的实验室进行DNA提取和基因分型研究。 来自多重家族的样本将被纳入全基因组筛选，以确定含有在唇腭裂形成中重要的基因的染色体区域。 来自三人组的样本将用于连锁不平衡研究，以证明哪些染色体区域对裂解很重要。 我们的目标包括每年招募20-30个多元化家庭和30-40个三人组。