Genetic Factors in Birth Defects

从畸形登记数据库中确定了大约20个主要畸形，以供今后调查。纽约州已经招募了工作人员，该方案是由纽约州警察局NICHD的调查人员制定的。卫生部和NHGRI。从先天畸形登记处和适当的对照对象中挑选了感兴趣的主要出生缺陷病例。登记处的数据已与该州的新生儿筛查方案联系起来，以确定第一组受试者的滤纸样本。滤纸样本正在从仓库中取出，DNA提取和等分鉴定过程很快就会开始。与此同时，研究人员已经开始为第一系列研究识别感兴趣的缺陷，并选择感兴趣的候选基因和变异的单核苷酸多态(SNPs)。选择一个实验室进行SNP基因分型的过程已基本完成；正在通过发送测试样本对首选实验室进行评估。

Approximately 20 major malformations have been identified from the malformations registry data base for future investigations. Staff have been recruited in New York State and the protocol has been developed by investigators from NICHD, The New York State Dept. of Health, and NHGRI. Cases with the major birth defects of interest have been selected from the Congenital Malformations Registry along with suitable control subjects. Data from the Registry have been linked with the State's newborn screening program to identify filter paper samples for the first group of subjects. The filter paper samples are being taken from storage and the process of DNA extraction and aliquotting will begin soon. Concurrently, the investigators have begun identifying defects of interest for the first series of studies and selecting candidate genes of interest and variant single nucleotide polymorphisms (SNPs). The process of selecting a laboratory for SNP genotyping is almost complete; the first choice laboratory is being evaluated by sending test samples.