GENETIC POLYMORPHISMS IN CHILDREN WITH CONGENITAL HEART DISEASE

先天性心脏病儿童的基因多态性

• 批准号: 7376472
• 负责人: Robert E Shaddy
• 金额: $ 0.63万
• 依托单位: UNIVERSITY OF UTAH
• 依托单位国家: 美国
• 财政年份: 2006
• 资助国家: 美国
• 起止时间: 2006-04-01 至 2007-02-28
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7376472
• 关键词: DNA; G protein; adrenergic receptor; beta adrenergic receptor; biopsy; blood; children; genes; genetics; heart; single nucleotide polymorphism; skin; syndrome

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. The purpose of this study is to examine the frequency of specific beta-adrenergic receptor, G-protein, Alpha 2-adrenergic receptor, Erk2 and H-Ras single nucleotide polymorphisms (SNP's) in a sample of children with congenital heart disease, specifically hypoplastic left heart syndrome (HLHS) and d-transposition of the great arteries (dTGA). Specific SNP's will be correlated with post-operative inotropic requirements, measures of ventricular function, and mortality. Blood will be drawn or skin biopsies will be obtained (infants) from study patients for the purpose of DNA isolation and determination of SNP's of the above-stated genes.

本子项目是利用由NIH/NCRR资助的中心赠款提供的资源的众多研究子项目之一。子项目和研究者（PI）可能已经从另一个NIH来源获得了主要资金，因此可以在其他CRISP条目中表示。列出的机构是中心的，不一定是研究者的机构。本研究的目的是检测特异性β -肾上腺素能受体、g蛋白、α 2-肾上腺素能受体、Erk2和H-Ras单核苷酸多态性（SNP）在先天性心脏病，特别是左心发育不全综合征（HLHS）和大动脉d转位（dTGA）患儿样本中的频率。特异性SNP将与术后肌力需求、心室功能测量和死亡率相关。将对研究患者（婴儿）进行抽血或皮肤活检，以分离DNA并确定上述基因的SNP。