Genetic Factors in Birth Defects

这项研究目前正处于发展阶段。纽约州正在招聘工作人员，纽约州警察局NICHD的调查人员正在制定该方案。卫生部和NHGRI。下一阶段将于2008财政年度开始，将从先天性畸形登记处确定具有重大出生缺陷的病例，并选择合适的对照对象。一旦完成，登记处的数据将与该州的新生儿筛查计划联系起来，为受试者识别滤纸样本。将从仓库中取出滤纸样本，并开始DNA提取和等分鉴定过程。同时，研究人员将确定感兴趣的候选基因并选择变异的单核苷酸多态(SNPs)进行研究。

This study is currently in the development phase. Staff are being recruited in New York State and the protocol is being developed by investigators from NICHD, The New York State Dept. of Health, and NHGRI. The next phase, which will begin in fiscal year 2008, is to identify cases with the major birth defects of interest from the Congenital Malformations Registry and select suitable control subjects. Once this is accomplished, data from the Registry will be linked with the State's newborn screening program to identify filter paper samples for the subjects. The filter paper samples will be taken from storage and the process of DNA extraction and aliquotting will begin. Concurrently, the investigators will be identifying candidate genes of interest and selecting variant single nucleotide polymorphisms (SNPs) for study.