内皮型一氧化氮合酶基因多态性在直立不耐受患儿核心家系中传递情况的研究

A family-based transmission disequilibrium test of polymorphisms of endothelial nitric oxide synthase gene in children with orthostatic intolerance

摘要:

目的：近年研究发现内皮型一氧化氮合酶（endothelial nitric oxide synthase, eNOS）基因启动子区T786C和第7外显子上的G894T变异与心血管疾病发病有关，本研究通过对等位基因T786C及G894T与直立不耐受（orthostatic inloterance, OI）患儿连锁不平衡传递情况分析，探讨eNOS基因多态性与OI发病可能的相关性。方法：采用聚合酶链反应（PCR）扩增、酶切等分子生物学技术，对符合OI诊断标准的60例先证者及其生物学父母组成的核心家系，测定eNOS/T786C、G894T的基因型，进行eNOS基因多态性T786C、G894T与OI相关性分析和传递不平衡检验（transmission disequilibrium test, TDT）。结果：eNOS/T786C及G894T多态性与OI患儿均存在连锁不平衡传递（均P＜0.05）。结论：eNOS/T786C及G894T与OI的发病存在相关性。

Abstract:

OBJECTIVE: Recent studies have found that the variation of G894T on the region of T786C and 7th exon promoted by endothelial nitric oxide synthase (eNOS) gene is associated with cardiovascular disease. This research explored possible correlations between eNOS gene polymorphisms and orthostatic intolerance (OI) in children through linkage disequilibrium analysis between eNOS genes T786C and G894T and OI. METHODS: PCR, Macrorestriction Map and other molecular biotechnology were used to determine the genotypes of eNOS/T786C and G894T in 60 OI probands and their parents. Correlation analysis and transmission disequilibrium test (TDT) between T786C, G894T and OI were performed. RESULTS: There was linkage disequilibrium of eNOS/T786C and G894T gene polymorphisms in the occurrence of childhood OI (P<0.05). CONCLUSIONS: eNOS genes T786C and G894T may be associated with the pathogenesis of OI.