先天性心脏病家系遗传学研究方法的应用进展  

Application of genetic methods in family-based association study of congenital heart disease

作　　者：李烁琳 袁媛[1] 黄国英[1,2] 

机构地区：[1]复旦大学附属儿科医院,上海201102 [2]上海市出生缺陷防治重点实验室,201102

出　　处：《国际儿科学杂志》2015年第5期549-552,共4页International Journal of Pediatrics

基　　金：国家“973”项目（2010CB529504）;国家自然科学基金项目（81370198）;上海市科委员科研计划连续资助项目（11JC1401400）

摘　　要：先天性心脏病（先心病）是常见的出生缺陷，目前认为，大多数先心病是环境因素和遗传因素共同作用所引起的，但其确切的发病机制尚未完全清楚。家族性再发是先心病临床表现的经典模式，各国收集的先心病家系资料显示一级亲属患病率明显增高。通过对多代先心病家系的分析有助于识别先心病的致病基因和遗传模式。近年来，随着分子生物学的快速发展，国内外学者通过不同的遗传学方法对先心病家系进行研究，如二代测序方法、连锁分析法、候选基因分析法等。这些方法使先心病发病的遗传机制取得一些进展，因此，该文对遗传学方法在家系研究中的应用进行综述。Congenital heart disease （CHD） is the most common survivable birth defect in newborns. Pathogenesis of CHD is thought to be associated with environmental and hereditary factors. However, the etiology of most CHD remains unclear. Familial resurgence presents a classic pattern of CHD and data from reviews showed a higher incidence rate in first-degree relatives. Analysis of large multigenerational families could improve the identification of numerous genes and inheritance model in CI-ID patients. Recent genetic breakthroughs allowed specific evaluation of genetic abnormalities in large families with CHD patients. Next-generation sequen- cing technologies,genetic linkage analysis and candidate gene analysis have all been applied in the research of family-based CHD. With the development of genetic research technologies, analyses of nuclear families or distantly corresponding ＂sporadic＂ cases have generated more progress in CHD studies. Thus ,this review will focus on the application of genetic methods in family-based association study of congenital heart disease.

关 键 词：先天性心脏病 家系研究 拷贝数变异 二代测序 连锁分析 

分 类 号：R541.1[医药卫生—心血管疾病]