GENETIC FACTORS IN BIRTH DEFECTS

出生缺陷的遗传因素

• 批准号: 7907034
• 金额: $ 17.55万
• 依托单位: CENTER OF ENVIRONMENTAL HEALTH
• 依托单位国家: 美国
• 财政年份: 2007
• 资助国家: 美国
• 起止时间: 2007-03-19 至 2012-03-18
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7907034
• 关键词: GENETIC; FACTORS; BIRTH; DEFECTS

Birth defects are a major cause of perinatal death and years of productive life lost, but the causes of many birth defects are unknown, and even less is known about how to prevent them. Genetic factors may play a role in birth defects, but it is difficult to identify the specific genetic factors because most birth defects are thought to be due to multiple genetic factors, not just one. Therefore, to sort out the role of possible genetic risk factors, data and biological samples from very large numbers of children with birth defects must be studied. Using de-identified data from birth certificates and DNA samples collected by New York State's birth defects registry and neonatal screening program, this study will identify large numbers of children with birth defects and children without such defects. The DNA from these children will be tested to identify possible genetic risk factors. Finding genetic changes that are associated with birth defects is the first step toward determining how birth defects occur (by looking at what the genetic changes do) and then, how the birth defects may be prevented (by correcting the mistakes caused by errors in the the genetic code cause).

出生缺陷是围产期死亡和丧失生产性生命的主要原因，但许多出生缺陷的原因尚不清楚，对于如何预防它们更是知之甚少。遗传因素可能在出生缺陷中发挥作用，但很难确定具体的遗传因素，因为大多数出生缺陷被认为是由多种遗传因素造成的，而不仅仅是一种遗传因素。因此，为了理清可能的遗传风险因素的作用，必须研究大量出生缺陷儿童的数据和生物样本。这项研究将利用纽约州出生缺陷登记处和新生儿筛查计划收集的出生证明和 DNA 样本中的去识别化数据，识别出大量有出生缺陷的儿童和没有此类缺陷的儿童。这些儿童的 DNA 将接受测试，以确定可能的遗传风险因素。找到与出生缺陷相关的基因变化是确定出生缺陷如何发生的第一步（通过观察基因变化的作用），然后确定如何预防出生缺陷（通过纠正由遗传密码错误引起的错误）。