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目的探讨多重连接依赖的探针扩增技术(MLPA)用于检测先天性心脏病遗传学病因的可行性。方法 2010年11月至2015年12月间,共收集110例散发的先天性心脏畸形患儿样本进行MLPA检测,将不同试剂盒Kit P311-A2和Kit P250-B1获得的扩增产物信息经Coffalyser DB v140701软件(Holland-MRC公司)进行定量分析,观察样本DNA拷贝数的变化,并将所得结果进行比较。结果 110例先天性心脏畸形患儿中,本实验所用的MLPA-P250试剂盒共检出5例22q11.2微缺失,1例22q11A-C区微重复,阳性检出率5.5%(6/110);MLPA-P311试剂盒共检出3例22q11.2微缺失,其他基因杂合缺失3例,22q11.2微重复1例,阳性检出率6.4%(7/110),两个试剂盒在检测22q11.2微缺失/微重复方面的结果吻合,可相互补充检测先天性心脏病病因。结论 MLPA可作为高效、简便的方法检测先天性心脏病患儿基因拷贝数的变异,具有较好的临床应用价值。
Objective To investigate the feasibility of using MLPA to detect the genetic cause of congenital heart disease. Methods A total of 110 cases of congenital heart abnormalities were collected from November 2010 to December 2015 for MLPA detection. The amplification products obtained from different kit Kit P311-A2 and Kit P250-B1 were analyzed by Coffalyser DB v140701 software (Holland-MRC) for quantitative analysis of changes in the sample DNA copy number, and the results were compared. Results Among the 110 cases of congenital heart malformations, MLPA-P250 kit used in this study detected 5 cases of 22q11.2 microdeletions, 1 case of 22q11A-C micro-replicates, the positive detection rate of 5.5% (6/110 ); MLPA-P311 kit detected 3 cases of 22q11.2 microdeletion, other gene heterozygous deletion in 3 cases, 22q11.2 micro-replicate in 1 case, the positive detection rate of 6.4% (7/110), two kits In the detection of 22q11.2 microdeletions / micro-replications consistent with the results, can complement each other to detect the etiology of congenital heart disease. Conclusion MLPA can be used as an efficient and simple method to detect the variation of gene copy number in children with congenital heart disease and has good clinical value.