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MAPPING NONSYNDROMIC CLEFT LIP AND PALATE GENETIC LOCI

绘制非综合征性唇腭裂遗传位点

基本信息

批准号：
7932563
负责人：
JACQUELINE T HECHT
金额：
$ 20.02万
依托单位：
UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON
依托单位国家：
美国
项目类别：
财政年份：
2009
资助国家：
美国
起止时间：
2009-09-22 至 2011-08-31
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/7932563
关键词：
Abbreviations Affect African American Biological Assay Boston Candidate Disease Gene Child Child Care Chromosomes Chromosomes, Human, Pair 8 Cleaved cell Clinic Collection Complex Congenital Abnormality Craniofacial Abnormalities Data Data Set Defect Development Disease Environmental Risk Factor Equilibrium Face Family Family health status Family history of Family member Funding Gene Structure Genes Genetic Genome Scan Genotype Goals Grant Haplotypes Health Care Costs Healthcare Hereditary Disease Hispanics Human Genome Project Inheritance Patterns Inherited Interferons Lead Linkage Disequilibrium Lod Score Maps Molecular Monozygotic Twinning Monozygotic twins National Human Genome Research Institute Newborn Infant Odds Ratio Operative Surgical Procedures Oropharyngeal Palate Parents Pediatric Hospitals Phenotype Play Population Prevalence Prevention Prevention program Prevention strategy Principal Investigator Recording of previous events Regulation Relative (related person)Research Research Personnel Resources Role Sampling Short Tandem Repeat Single Nucleotide Polymorphism Site Speech Testing Texas Universities Variant Work base case control cleft lip and palate craniofacial density genetic pedigree genome wide association study high risk human NAT2 protein improved interdisciplinary approach medical schools nonsyndromic cleft lip with or without cleft palate population based programs reconstruction transmission process

项目摘要

DESCRIPTION (provided by applicant): Nonsyndromic cleft lip and palate (NSCLP) is a common birth defect affecting approximately 4,000 newborns each year in the US and a million worldwide. Multidisciplinary approaches have improved the care of these children but long-term problems persist and are related to facial dysmorphism and speech impediments. The health care costs are significant. Numerous studies support the idea that NSCLP is a complex disorder and that genetic factors play an important etiologic role in its development. The challenge now is to identify the NSCLP loci. Towards this goal, we have amassed a collection of multiplex families and simplex trios and we have employed a combination of candidate gene and genome scan approaches to successfully identify 12 chromosomal regions and several candidate genes to interrogate. Most exciting is the identification of a 20cM region on chromosome 8 with a maximum LOD score of 2.84 in a single large African-American family. In these continuing studies, we will further refine the identified chromosomal regions and fully characterize our candidate genes. We will continue to collect NSCLP families and simplex NSCLP trios to further expand our data set and will assemble a population based case-control data set for use in confirmatory studies. Finally we will submit our expanded sample set to a high-density genome scan during the third year of the funding cycle. The results of this study will provide data essential to the identification of the gene(s) contributing to the NSCLP phenotype. Identification of high-risk genotypes can lead to the development of prevention programs in selected populations and may suggest gene-based prevention strategies.

描述（由申请人提供）：非综合征性唇腭裂（NSCLP）是一种常见的出生缺陷，每年影响美国约4,000名新生儿和全球100万新生儿。多学科方法改善了这些儿童的护理，但长期的问题仍然存在，并与面部畸形和语言障碍有关。医疗费用是巨大的。大量研究支持NSCLP是一种复杂的疾病，遗传因素在其发展中起着重要的病因学作用。现在的挑战是确定NSCLP位点。为了实现这一目标，我们收集了多重家族和单纯性三重奏，我们采用了候选基因和基因组扫描方法的组合，成功地鉴定了12个染色体区域和几个候选基因进行询问。最令人兴奋的是，在一个非洲裔美国人大家庭中，在8号染色体上发现了一个20cM区域，最大LOD评分为2.84。在这些持续的研究中，我们将进一步完善已鉴定的染色体区域，并充分表征我们的候选基因。我们将继续收集NSCLP家族和单纯NSCLP三人组，以进一步扩大我们的数据集，并将收集一个基于人群的病例对照数据集，用于验证性研究。最后，我们将在资助周期的第三年提交我们的扩展样本集进行高密度基因组扫描。本研究的结果将为鉴定导致NSCLP表型的基因提供必要的数据。高风险基因型的鉴定可以导致在选定人群中制定预防方案，并可能提出基于基因的预防策略。