【摘要】 目的:采用多重连接探针扩增技术(MLPA)与荧光原位杂交技术(FISH)对22q11.2微缺失综合征(22q11.2DS)胎儿进行检测。方法:采集22q11.2DS胎儿羊水及其父母外周血,提取DNA后采用MLPA进行检测;同时取胎儿羊水、父母外周血进行常规染色体核型分析;使用FISH探针(TUPLE1/ARSA)对羊水细胞进行杂交检测。结果:MLPA检测结果显示22q11.2DS胎儿22q11.21区域196、208、371信号均降低,胎儿父母检测均为正常;常规染色体核型分析均未见异常;应用FISH技术可检测到胎儿TUPLE1基因缺失。结论:MLPA技术在诊断22q11.2DS中较FISH技术可提供更多的信息。更多还原

【Abstract】 Aim: To detect the genetic deletion / duplication with 22q11.2 from amniotic fluid in the fetus with22q11.2 microdeletion syndrome by MLPA and FISH.Methods: The amniotic fluid and peripheral blood from the parents were prepared for MLPA and chromosome karyotype analysis; FISH probe( TUPLE1 / ARSA) was used to detect the microdeletion at 22q11.2.Results: The results of MLPA showed that the fluorescence peak of those 3 probes( 196,208,371) associated with 22q11.2 microdeletion syndrome of the patient were lower.The results of FISH showed that the TUPLE1 / ARSA probe hybridization signal of the fetus disappeared in one chromosome of 22q11.2.Conclusion: MLPA could provide more information in the diagnosis of 22q11.2 microdeletion syndrome than FISH.更多还原