Objective To study the prevalence of HAND2 mutations in congenial heart disease (CHD) and the correlation between the HAND2 genotype and CHD phenotype. Methods We amplified the exons and the flanking intron sequences of the HAND2 gene in 131 patients diagnosed with congenital defects of the right ventricle, outflow tract, aortic arteries or cardiac cushion, and confirmed the mutations by sequencing. Results Seven distinct mutations including three missense mutations (PUR, S36N and V83L) , one synonymous mutation (H14H) , and three mutations in untranslated region (UTR) (+241A/G, +604A/G, +3237T/A) were identified in 12 out of the 131 patients (9. 16%). Both non-synonymous mutations were located in the transcriptional activation domain on the N-terminus. These mutations as well as the mutation (+3237T/A) in the 3'UTR, which was present in five patients, did not occur in 250 normal healthy controls. Conclusion HAND2 may be a potential candidate gene of stenosis of the right ventricle outflow tract.%目的 探讨转录因子HAND2基因在先天性心脏病患者中的突变率及其基因型与先天性心脏病表型的相关性研究.方法 选择131例先天性心脏病患儿作为实验对象,其心脏畸形与HAND2表达节段相关,同时选取250例健康儿童作为对照组,扩增其HAND2基因的外显子及侧翼内含子,并进一步测序检测突变情况.结果 在编码区中,我们在实验组编码区中发现4例3种错义突变(P11R、S36N和V83L)及1例同义突变(H14H),这3种错义突变中的S36N在250例正常儿童对照组中也检测到1例,编码区的突变情况在两组间不存在统计学差异.在实验组7例患者的非转录区中还发现了3种不同的突变(+241A/G1例、+604A/G1例及+3237T/A 5例),该3种突变在对照组中未检测到,其中+ 3237T/A突变在两组间存在统计学差异.结论 HAND2基因可能在先心病患者的发病机制中发挥一定的作用.
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