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中文摘要
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这个子项目是许多研究子项目中利用 资源由NIH/NCRR资助的中心拨款提供。子项目和 调查员(PI)可能从NIH的另一个来源获得了主要资金, 并因此可以在其他清晰的条目中表示。列出的机构是 该中心不一定是调查人员的机构。 不良妊娠结局包括先兆子痫、HELLP综合征、胎盘早剥、前置胎盘、宫内发育迟缓、胎儿宫内死亡、早产、胎膜早破和败血症。为了调查这些疾病的遗传联系,两项大规模的基因关联研究正在进行中。每项研究都涉及收集多达2000名有不良结局的女性患者、她们的新生儿、新生儿的父亲(在一项研究中)和正常女性对照组的临床信息和DNA。智利已经招募了一个队列;美国计划招募第二个队列。在每个样本中,将测试大约200个候选基因,以确定与怀孕并发症类型定义的每个亚组的关联。对于每个候选基因,将对1-3个SNPs进行基因分型。计划中的分析包括病例对照关联分析和传播不平衡测试,以确定儿童基因的作用并评估母亲/胎儿的基因类型相互作用。
英文摘要
This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. Adverse pregnancy outcomes include pre-eclampsia, HELLP syndrome, abruptio placenta, placenta previa, intrauterine growth retardation, intrauterine fetal death, preterm labor, premature rupture of membranes and sepsis. To investigate genetic links to these conditions, two large-scale gene association studies are underway. Each involves the collection of clinical information and DNA on up to 2000 female patients with adverse outcome, their newborn, the newborn's father (in one study) and normal female controls. One cohort has been recruited in Chile; recruitment of the second cohort is planned for the U.S. In each sample, about 200 candidate genes will be tested for association to each subgroup defined by type of pregnancy complication. For each candidate gene, 1-3 SNPs will be genotyped. Planned analyses include case-control association analysis and transmission-disequilibrium testing to determine the role of the child's genotype and evaluate maternal/fetal genotypic interactions.
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Exome sequencing in Diverse Populations in Colorado & Oregon
Clinical Implementation of Carrier Testing using NGS
Exome sequencing in Diverse Populations in Colorado & Oregon
Barriers to Knowledge of Family History and Family Communication among Sexual Minorities and the Implications in the Context of Hereditary Cancer Syndromes
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