CITED2基因突变与先天性心脏病关系研究  

Study of association between CITED2 gene mutation and congenital heart disease

作　　者：杨小萌[1] 张海燕[1] 张坤[2] 张光业[1] 董睿[1] 王莹[1] 王辉 刘毅[1] 马衍辉[1] 

机构地区：[1]山东大学齐鲁儿童医院儿科研究所,山东济南250022 [2]山东大学齐鲁儿童医院心血管科,山东济南250022

出　　处：《中国实用儿科杂志》2016年第2期131-134,共4页Chinese Journal of Practical Pediatrics

摘　　要：目的研究CITED2基因突变与先天性心脏病(CHD)的关系。方法 2013年1月至2015年1月山东大学齐鲁儿童医院收集368例散发型CHD患儿和200名健康儿童血液样本进行DNA抽提,PCR扩增CITED2外显子区,Sanger测序后,进行Gene Bank对比和氨基酸序列分析。结果发现4例杂合突变。病例1室间隔缺损患儿为c.399C>T同义突变(p.His133His);病例2室间隔缺损患儿为SGJ区c.574A>G的错义突变(p.Ser192Gly);病例3房间隔缺损患儿为已知SNP位点(rs191856368);病例4动脉导管未闭患儿为新发现的错义突变(p.Ser96Phe)。这些突变在对照组中均未检测到。结论 CITED2基因Ser192Gly和p.Ser96Phe突变可能与CHD发生有关。Objective To investigate the association of CITED2 gene mutation with congenital heart disease （CHD）. Methods The blood samples were collected from 368 children with sporadic CHD and 200 healthy children from January 2013 to January 2015 at Qilu Children＇s Hospital of Shandong University. The genomic DNA was extracted and then the exon regions of CITED2 were amplified and sequenced.The results were compared with GenBank database and then analyzed by amino acid sequences. Results Four heterozygous mutations were identified in four patients with CHD. Case 1 （VSD） was c.399C 〉 T synonymous mutation （p.His133His） and Case 2 （VSD） was c.574A 〉 G missense muta- tion（p.Ser192Gly） located in SGJ region; Case 3 （ASD） was a known SNP site of rs191856368 and Case 4（PDA） was c.287 C 〉 T missense mutation （p.Ser96Phe）. None of which was detected in the control group. Conclusion CITED2 gene Ser192Gly and P.Ser96Phe mutations might be associated with the development of local CHD.

关 键 词：先天性心脏病 CITED2 基因突变 

分 类 号：R72[医药卫生—儿科]