性别相关的母血中游离胎儿DNA的Y染色体微缺失筛查的探索研究  

Screening the sex-related Y chromosome microdeletion of free fetal DNA in maternal blood

作　　者：熊进[1] 邓锴[1] 张昌军[1] 刁红录[1] 董毅飞[1] 

机构地区：[1]湖北医药学院附属人民医院生殖医学中心,湖北十堰442000

出　　处：《中国性科学》2014年第11期93-95,共3页Chinese Journal of Human Sexuality

基　　金：湖北省自然科学基金(2013CFB479);湖北省大学生创新训练项目(201310929017)

摘　　要：目的：利用孕妇血浆中游离胎儿DNA进行Y染色体微缺失筛查，在孕早期排查出AZF缺失的男性胎儿。方法：留取16～20孕周进行唐氏筛查的孕妇血标本，提取出全血基因组DNA后利用AZF基因特异性引物进行多重PCR，跑胶检测实验结果。结果：妊娠女性胎儿的孕妇血浆DNA用AZF基因特异性引物没有扩增出特异性条带，而妊娠男性胎儿的孕妇血浆DNA用AZF基因特异性引物能够扩增出特异性条带。结论：通过提取孕妇血浆中的DNA能够检测到游离胎儿DNA，并能通过多重PCR鉴定出胎儿是否为AZF基因缺失，从而提前预测胎儿今后罹惠无精子症的风险。Objectives： Using maternal free fetal DNA to screen Y chromosome microdeletion in early preg- nancy and to investigate the AZF deletions male fetus. Methods： The blood samples from pregnant women in 16th - 20th week of gestation were screened for Down, and the whole blood genomie DNA was extracted to run a multiplex PCR by using AZF gene - specific primers. Results： There were no AZF gene- specific bands in female fetal DNA, while the AZF gene - specific bands could be amplified from male fetal DNA. Conclusion： Extracting the DNA in maternal plasma will be able to detect free fetal DNA and then identify whether the fetus is AZF gene dele- tions by multiplex PCR, thus predicting the potential risk of azoospermia for fetus in the future.

关 键 词：游离胎儿DNA Y染色体微缺失 多重PCR 无精子症 

分 类 号：R394[医药卫生—医学遗传学]