胎儿RhD基因型的诊断研究

Prenatal diagnosis the newborn RhD genotype with maternal plasma

【目的】 建立一种新生儿RhD血型出生前基因诊断的方法。 【方法】 采用PCR技术对 2 7例妊娠14～ 40周的单胎孕妇血浆中游离胎儿DNA进行RhD基因第 10外显子的特异性扩增 ,扩增片段长度为 186bp ,另外以等位基因RhCE基因为内对照 ,扩增片段长度为 13 6bp。 【结果】 10例Rhd-孕妇中 ,6例扩增出 13 6bp一条特异性片段 ,4例同时扩增出 13 6bp和 186bp两条特异性片段 ;17例RhD+ 孕妇血浆标本 ,均同时扩增出 13 6bp和 186bp两条特异性片段 ,所有RhD PCR扩增结果均得到新生儿脐血血清学检测结果的证实。 【结论】 PCR扩增孕妇血浆中游离胎儿DNA ,是一种简便、快速且无损伤性的产前诊断胎儿RhD基因型的方法 。

To set up a method for prenatal diagnosis of the newborn RhD genotype. 10 RhD negative and 17 RhD positive pregnant women with single fetuses were studied. DNA extracted from 27 maternal plasma (between 14～40 weeks) was amplified by polymerase chain reaction. Fetal RhD status were confirmed by serologic analysis of cord blood. Among the 10 RhD negative women, 136 bp special fragment was identified in 6 women, 136 bp and 186 bp special fragment was amplified in other 4 women. Among the 17 RhD positive women, 136 bp and 186 bp special fragment was amplified in all of them. [Conclusion] Amplified the fetal DNA in maternal plasma by PCR was a simple quick and specificity non invasive prenatal gene diagnosis and could be spread.