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

VernacularTitle:先天性心脏病家系遗传学研究方法的应用进展
Author: Shuolin LI
Publication Type:Journal Article
Keywords: Congenital heart disease; Pedigree; DNA copy number variations; High-throughput nucleotide sequencing; Genetic linkage analysis
From: International Journal of Pediatrics 2015;42(5):549-552
CountryChina
Language:Chinese
Abstract: 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 CHD patients.Recent genetic breakthroughs allowed specific evaluation of genetic abnormalities in large families with CHD patients.Next-generation sequencing 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 famihies 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.