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目的探讨TUPLE1基因缺失在先天性心脏病发病机制中的作用。方法应用荧光原位杂交(FISH)技术,对36例经产前超声诊断为先天性心脏畸形胎儿的脐带血进行22q11微缺失的检测,同时对20例正常新生儿脐带血进行22q11微缺失的检测。结果 36例先天性心脏畸形脐血标本诊断为22q11微缺失的有17例,其中法洛氏四联症3例,其他14例,合并胎儿躯体变形及胎儿生长受限的14例,颈项半透明厚度增加3例;20例正常新生儿脐血标本未检测到22q11微缺失。综合型先天性心脏病16例,单一型先天性心脏病1例。男性胎儿9例,女性胎儿8例。结论 TUPLE1位点缺失是导致先天性心脏畸形的重要病因;22q11微缺失患者中的心血管畸形类型多样。
Objective To investigate the role of TUPLE1 gene deletion in the pathogenesis of congenital heart disease. Methods The fluorescence quantitative in situ hybridization (FISH) was used to detect the microdeletion of 22q11 in umbilical cord blood of 36 fetuses diagnosed as congenital heart malformation by prenatal ultrasound. At the same time, the detection of 22q11 microdeletions in cord blood of 20 normal neonates was detected . Results Thirty-six cases of 22q11 microdeletions were diagnosed in 36 cases of congenital heart malformations, including 3 cases of tetralogy of Fallot and 14 cases of the other 14 cases with fetal body deformation and fetal growth restriction, 14 cases of translucency Thickness increased in 3 cases; 20 cases of normal newborn cord blood samples did not detect 22q11 microdeletions. Comprehensive congenital heart disease in 16 cases, a single type of congenital heart disease in 1 case. 9 male fetuses and 8 female fetuses. Conclusions The deletion of TUPLE1 locus is an important cause of congenital heart malformations. Cardiovascular malformations in patients with 22q11 microdeletions are diverse.