Genetic Factors in Birth Defects

大约有20个主要的畸形已经从畸形登记数据库中确定，以供未来的调查。在纽约州招募了工作人员，并由NICHD、纽约州卫生部和NHGRI的调查人员制定了方案。有重大出生缺陷的病例已从先天性畸形登记处选择，并与合适的对照对象。登记处的数据已与国家新生儿筛查规划联系起来，以确定第一批受试者的滤纸样本。滤纸样本正在从储存处取出，DNA提取和等分的过程将很快开始。同时，研究人员已经开始为第一系列研究确定感兴趣的缺陷，并选择感兴趣的候选基因和变异单核苷酸多态性（snp）。选择实验室进行SNP基因分型的过程已基本完成；首选实验室正在通过发送测试样本进行评估。

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.