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目的 从孕妇外周血分选胎儿有核红细胞 ,对 DYS基因进行扩增 ,并对扩增准确率进行分析。方法 应用流式细胞术 (flow cytometry,FCM)从孕妇外周血分选胎儿有核红细胞 (Nucleated red blood cells,NRBCs) ,应用套式PCR特异性扩增 DYS14基因 ,琼脂糖凝胶电泳检测。结果 30例受检者中 ,共有男婴 18例 ,有核红细胞组 DYS14基因的检出率为 5 0 .0 % (9/18)。结论 NRBCs分选技术的建立使非创伤性产前基因诊断成为可能 ,但如何进一步改进方法提高分选率 ,确保诊断的灵敏性 ,降低漏诊率 ,仍是需要进一步解决和完善的问题。
OBJECTIVE: To sort out fetal erythrocytes from peripheral blood of pregnant women and amplify DYS gene. The accuracy of amplification was analyzed. Methods Fetal nucleated red blood cells (NRBCs) were isolated from peripheral blood of pregnant women by flow cytometry (FCM). DYS14 gene was amplified by nested PCR and detected by agarose gel electrophoresis. Results Among the 30 subjects, 18 were male infants. The detection rate of DYS14 gene in the nucleated erythrocyte group was 50.0% (9/18). Conclusion The establishment of NRBCs sorting technique makes it possible to diagnose noninvasive prenatal genes. However, how to improve the sorting rate, ensure the sensitivity of diagnosis and reduce the misdiagnosis rate are still problems to be solved.