利用孕早期宫颈脱落滋养层细胞检测胎儿TSPY基因

Detection of TSPY Gene of Fetal Cell in Tramscervical Samples during First - Trimester.

为了解利用孕早期宫颈脱落滋养层细胞进行产前诊断的可能性,本研究针对55例孕早期5～8周将行接受人工流产的妇女,对经子宫颈收集到的脱落细胞进行了睾丸特异件蛋白基因(TSPY)的检测。结果取材成功率为52.7％(29/55);而在29例样品中,11例经绒毛DNA证实为男胎的孕妇宫颈脱落细胞有8例检出TSPY基因,而其余3例未检出TSPY基因;18例怀女胎的孕妇宫颈脱落细胞中均未检出TSPY基因。本研究结果表明孕早期从宫颈脱落细胞中可检出胎儿单拷贝TSPY基因,提示了利用这些细胞进行产前分子诊断的可能性。

To determine the possibility of trophoblastic cells shadding into the cervical mucus for early prenatal diagnosis, trancervical cell sampling was adopted to study 55 pregnants between 5 to 8 weeks gestation who elected pregnancy termination. The success rate of obtaining cells was 52. 7% (29/55). The fetal testis -specific protein Y - encoded, TSPY gene were analyzed using polymerase chain reaction on remaining 29 cases, and the TSPY gene was detected in 8 of the 11 male fetus with a success rate of 72.7% (8/11) , while 18 of 18(100%) female fetus were correctly determined. These data showed that the presence of trophoblastic cells in the cervix in the first trimester and these cells could be used for prenatal genetic diagnosis.