用孕妇干血纸片诊断胎儿性别的研究

FETAL SEX DETERMINATION WITH DRIED BLOOD SPECIMENS OF THE PREGNANTS

孕妇外周血中含有少量胎儿细胞,从滤纸片上的孕妇干血滴中可以获得微量胎儿基因组DNA。在引物的作用下通过聚合酶链式反应将男性胎儿的Y染色体特异片段扩增后,在电泳微胶上可见1条Y特异的荧光带,但胎儿为女性时无此荧光带。基于上述原理,该文首次报告了用孕妇外周血制备的干血纸片诊断胎儿性别的方法和诊断25名胎儿性别的结果。该法安全简便,不需羊膜腔穿刺或绒毛取材,亦不必进行分子杂交或放射自显影。干血纸片在任何地区条件下均可制备并易于邮寄。该法的推广应用将在性连锁遗传病的预防中发挥作用。

A simple method of fetal sex determination with a small volume of maternal blood spotted on filter paper is described, which is based on amplification of the fetal Y-specific DNA fragment with polymerase chain reaction (PCR). It has been shown that the small amount of fetal cells in maternal blood spots may provide enough fetal genomic DNA for PCR amplification and the fetal sex can be identified directly on a mini-gel after electrophoresis of the amplified products. This method bypasses the amniocentesis or chorionic villus biopsy and is applicable in any circumstances since the filter paper with dried blood spots can be easily prepared, stored and transfered.