FISH技术在先天畸形胎儿基因诊断中的应用探讨

目的应用荧光原位杂交技术（FISH）研究先天畸形胎儿中先心病相关基因的表达缺失率。方法选取在北京大学人民医院产前诊断为胎儿先天畸形病例31例，其中心血管畸形16例，非心血管畸形15例。产前经脐带血穿刺留取胎儿血。选取同期正常新生儿12例作为对照组，分娩时留取脐血。应用间期FISH方法，检测畸形胎儿及正常新生儿的TUPLE1基因表达缺失率。结果正常新生儿组与先天畸形胎儿组TUPLE1基因表达缺失率分别为0％和35．48％，两组相比较差异有显著性（P〈0．05）。心血管畸形与非心血管畸形胎儿组的TUPLE1基因表达缺失率分别为43．75％及26．67％，两组比较，差异无显著性（P〉0．05）。结论TUPLE1基因因素是胎儿先天性畸形的重要病因。

FISH analysis for gene diagnosis of fetus with congenital anomaly

Objective To evaluate TUPLE1 detection by interphase fluorescence in situ hybridization(FISH)in the gene diagnosis of congenital anomaly.Methods Blood specimens from 31 patients,which were divided into group of congenital heart anomaly(16 cases),group of congenital diseases without congenital heart anomaly(15 cases),were collected from Peking University People's Hospital.And 12 normal neonates were recruited as control group. The fluorescent signals in cytological samples of blood specimens were detected by interphase FISH with the TUPLE1/ARSA probe.Results The deletion rate of TUPLE1 gene in the group of congenital anomaly was higher than normal neonate group(35.48% vs0%,P<0.05).The deletion rates of TUPLE1 gene in the group of congenital heart anomaly and the other group were 43.75% and 26.67%,respectively(P>0.05). Conclusions Gene plays a very important role in etiology of congenital anomaly.