心脏圆锥动脉干畸形22q11.2微缺失的研究龚启华1杨一峰[]2赵天力2.docVIP

心脏圆锥动脉干畸形22q11.2微缺失的研究 龚启华1 杨一峰2 赵天力2 陈金兰2 （1.贵州省人民医院心血管外科,贵阳,550002；2.中南大学湘雅二医院心胸外科,长沙,410011) ［摘要］目的：以双色细菌人工染色体-荧光原位杂交为核心技术对先天性心脏圆锥动脉干畸形患者进行2q11.2微缺失检测，探讨心脏圆锥动脉干畸形与22q11.2微缺失的关系。选取所收治的心脏圆锥动脉干畸形患者65例。其中，法洛四联症27例，右心室双出口13例，左心室双出口1例，大动脉转位5例，共同动脉干3例，主动脉瓣狭窄2例，肺动脉瓣狭窄9例，肺动脉闭锁2例,主动脉瓣狭窄并关闭不全1例，主动脉缩窄2例。在UCSC （http:// genome. ）数据库中选择合适的BAC克隆，自制双色BAC探针，对上述患者进行22q11.2微缺失检测。65例患者中检测出22q11.2微缺失患者5例，总缺失检出率为7.7%。其中法洛四联症2例(2/27), 缺失率7.4%;右心室双出口2例( 2/13), 缺失率15.4%;共同动脉干1例(1/3), 缺失率33.3%。心脏圆锥动脉干畸形与22q11.2微缺失存在一定联系。 圆锥动脉干畸形双色细菌人工染色体-荧光原位杂交22q11.2微缺失Research on 22q11.2 microdeletion in patients with cono-truncal deformanity. Gong Qi-hua1,Yang Yi-feng2,Zhao Tian-li2,Chen Jin-lan2.（1.Department of Cardiovascular Surgery,the people’s Hospital of Guizhou Province, 550002,P.R.China;2.Department of Thoracic and Cardiovascular Surgery,Second Xiang ya Hospital,Central South University,Changsha,410011,P.R.China） Abstract: Objective To determine the frequency of 22qll.2 microdeletions in Chinese pediatric patients with conotruncal defect.Methods A total of 65 Chinese pediatric conotruncal heart defect patients (27 with tetralogy of fallot, 13 with double outlet right ventricle,2 with pulmonary artery atresia with ventricular septal defect,2 with corrected transposition of the great arteries,3 with transposition of the great arteries,1 with double outlet left ventricle,3 with persistent truncus arteriosus,2 with aortic stenosis,1 with aortic stenosis associated with aortic insufficiency,9 with pulmonary stenosis and 2 with aortic coarctation)，22 females and 43 male ranging in age from 0.03 to 11 years, were included in our study.We did dural-color bacterial artificial chromosome(BAC) fluorescence in situ hybridization with RP11-316L10/CTD-2335H16 probe to find the chromosome 22qll.2 deletion in peripheral blood cells of patients.Results Chromosome 22qll.2 microdeletion was detected in 5(5/65) patients with conotruncal defects.The total frenquency of 22qll.2 deletion was 7.7%. 7.4% in TOF,1