QF-PCR检测22q11.2微缺失在产前诊断CHD中的应用  

Application of detection of 22q11. 2 microdeletion with FQ-PCR in prenatal diagnosis of CHD

作　　者：王文靖[1] 任晨春[1] 常诚[2] 田卉[1] 张海霞[1] 梁玥宏[1] 张志坤[1] 崔洪艳[1] 

机构地区：[1]天津市中心妇产科医院遗传室,300100 [2]天津市儿童医院心外科

出　　处：《中国妇幼保健》2014年第28期4597-4600,共4页Maternal and Child Health Care of China

基　　金：天津市卫生局重点基金项目〔2011KR18〕

摘　　要：目的:将荧光定量PCR(QF-PCR)技术应用于22q11.2微缺失引起的先天性心脏病(CHD)的产前诊断中,以明确部分CHD病因,指导临床决策,从而减少CHD出生缺陷率。方法:对45例经B超诊断为CHD的胎儿取羊水进行染色体核型分析及QF-PCR检测,并对QF-PCR检测有缺失的CHD胎儿进行FISH验证。另选30例经B超诊断正常、因计划外怀孕需做引产的胎儿作为对照组。结果:45例CHD胎儿共检出异常核型3例,在42例染色体正常CHD的胎儿中,经QF-PCR检测有40例TBX1与PTBP1基因拷贝数的比值为(0.936±0.310),接近于1;2例胎儿的比值明显降低,为(0.507±0.038),接近于0.5,诊断为22q11.2微缺失。这2例胎儿均经FISH验证为阳性结果。结论:QF-PCR检测22q11.2微缺失结果可靠,可用于产前诊断CHD的胎儿的病因,达到优生优育的目的。Objective： To apply fluorogenic quantitative PCR （FQ - PCR） in prenatal diagnosis of congenital heart disease （CHD） induced by 22q11.2 microdeletion to determine the causes of partial CHD and direct clinical decision making, so as to reduce the incidence rate of CHD. Methods： Amniotic fluid chromosome karyotyping and FQ - PCR were conducted among 45 cases whose fetuses were diagnosed as CHD by ultrasonography, FISH was conducted among the cases whose fetuses were found with deletion detected by FQ - PCR. Thirty cases undergoing induced abortion because of unwanted pregnancy whose fetuses were normal detected by ultrasonography were selected as control group. Results： Three fetuses with abnormal chromosomal karyotypes were detected among 45 CHD fetuses; among 42 CHD fetuses with normal chromosomes, FQ - PCR showed that the ratio of copy numbers of TBX1 gene and PTBPl gene in 42 fetuses was （0. 936±0. 310） , which closed to l; the ratio in two fetuses decreased significantly, which was （0. 507±0. 038） and the ratio closed to 0. 5, these fetuses were diagnosed as 22q11.2 microdeletion. The two fetuses were proved to be positive by FISH. Conclusion ： The results of FQ - PCR for detecting 22q11.2 microdeletion is reliable, which can be used for prenatal diagnosis of causes of CHD fetuses, so as to a-chieve eugenics.

关 键 词：荧光定量PCR 22Q11.2微缺失 先天性心脏病 TBX1基因 

分 类 号：R714.5[医药卫生—妇产科学]