汉族儿童NOTCH2基因多态性与散发先天性心脏病的相关性  

Relationship of NOTCH2 gene polymorphism in Chinese Han children and sporadic congenital heart diseases

作　　者：笪敏[1] 莫绪明[1] 扈元利 钱波[1] 

机构地区：[1]南京医科大学附属南京儿童医院心胸外科,江苏省210008

出　　处：《江苏医药》2014年第3期275-277,共3页Jiangsu Medical Journal

基　　金：国家自然科学基金(81070137)

摘　　要：目的探讨NOTCH2基因多态性位点与汉族儿童散发先天性心脏病(先心病)发生的相关性。方法采用SNPshot技术检测先心病患儿945例(先心病组)和非先心病患儿972例(对照组)的NOTCH2基因位点rs699780的基因分型,分析不同基因型频率和等位基因频率与先心病的关联。结果 NOTCH2基因多态rs699780位点在先心病组与对照组中的基因型频率与等位基因频率差异无统计学意义(P>0.05)。对年龄、性别以及单先心病种进行分层分析显示,其差异也无统计学意义(P>0.05)。结论未发现中国汉族儿童NOTCH2基因多态位点rs699780与散发先心病易感性相关。Objective To explore the relationship between single nucleotide polymorphism of NOTCH2 and occurrence of sporadic congenital heart disease（CHD） in Chinese Han children. Methods The genotype of rs699780 in NOTCH2 gene was detected with SNPshot technique in 945 children with CHD（group CHD） and 972 children without CHD（group non-CHD）. Allele and genotype frequencies between two groups were analyzed. Results No significant differences were found in allele and genotype frequency distribution between two groups. The stratification analysis by age, gender and disease also showed no significant difference in allele and genotype frequency distribution as well. Conclusion The single nucleotide polymorphism rs699780 in NOTCH2 gene is not associated with the susceptibility to sporadic CHD in Chinese Han children.

关 键 词：先天性心脏病 NOTCH2基因 单核苷酸多态性 儿童 

分 类 号：R725[医药卫生—儿科]