孕妇外周血中单个胎儿有核红细胞的产前基因分析

Prenatal Genetic Analysis of Single Fetal Nucleated Red Blood Cell from Maternal Blood

为探讨母血中单个胎儿有核红细胞 (NRBC)行产前基因分析的可行性 ,对 45名孕妇外周血行不连续密度梯度离心 ,显微操作获取单个 NRBC,A组 2 4例进行引物延伸预扩增 (PEP) ,后行 Y染色体特异性 DYZ1基因的聚合酶链反应 (PCR) ,B组 2 1例直接进行 Y染色体特异性 DYZ1基因的 PCR。发现 45名孕妇中有 2 4名检出 NRBC,A组中男胎符合率为 70 % ,总符合率为 83.3% ,B组则均未扩增到 PCR产物。提示用母血中单个胎儿 NRBC经 PEP- PCR法行产前基因分析是可行的。

In oder to study the feasibility of prenatal genetic analysis of single fetal nucleated red blood cell (NRBC) from maternal blood, peripheral blood from 45 pregnant women was subjected to discontinuous density gradient centrifugation to obtain single NRBC by using a micromanipulator. Primer extension preamplification (PEP) and polymerase chain reaction (PCR) of a Y chromosome specific repeat sequence were performed in 24 patients (group A). Only PCR of a Y chromosome specific repeat sequence was performed in the remaining 21 cases (group B). It was found that NRBCs were detectable in 24 out of 45 pregnant women. In group A, male pregnancy was correctly predicted in 70 %. The overall agreement of the diagnosis was 83 3 %. In group B, the Y specific DNA sequence was not amplified. It was suggested that the prenatal genetic analysis of single fetal NRBC by using PEP PCR method is feasible.