胎儿SRY基因用于产前诊断的初步研究

采用ＰＣＲ技术，对５０例胎儿组织ＤＮＡ进行了Ｙ染色体特异的ＳＲＹ基因扩增。扩增片段长度为２５０ｂｐ。结果显示：３２例早孕绒毛ＤＮＡ中，有１７例扩增出特异性片段．１５例未扩增出特异性片段，有、无特异性片段比例为１．１３３：１，接近胎儿自然出生性别之比；１８例中孕引产胎盘ＤＮＡ中８例阳性，１０例阴性，与引产胎儿实际性别完全一致。因ＰＣＲ扩增胎儿ＳＲＹ基因特异性强、灵敏度高，可用于早期胎儿性别的产前诊断。

THE FETAL SRY GENE FOR PRENATAL DIAGNOSIS

A human Y chromosome-specificgene (sex determining region Y, SRY) was amplified by polymerase chain reaction. A 250 bp malespecific fragment was obtained. It had been shownthat the specific fragment was identified in 17 of 32chorionic villi samples, but unidentified in 15 samsex rate of new born babiesl & of 18 placenta samples were positive, others were negative. The diagnosis accordance rate was 100%. The resultsshowed that fetal sex determination by PCR wouldbe suitable for early prenatal sex diagnosis of the fetus.