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目的探讨一种鉴定母血中胎儿有核红细胞(NRBC)的方法,为无创性产前基因诊断创造必要条件。方法联苯胺染色识别孕妇外周血中 NRBC,经显微操作获取,并以引物延伸预扩增(PEP)对单个 NRBC 进行全基因组扩增后,用短串联重复序列(STR)分析其基因型,与父母基因型比对,确定该细胞的来源。结果 28例轻型β地中海贫血孕妇外周血样本中每例发现 NRBC 4～13个/5ml,经鉴定每例有胎儿 NRBC 2～8个/5ml,约43.6%的 NRBC 来源于胎儿。结论 PEP 后 STR 基因型分析能有效鉴定孕妇外周血中 NRBC 的来源,使应用单个胎儿 NRBC 进行产前基因诊断成为可能。
Objective To explore a method for identifying fetal nucleated erythrocytes (NRBC) in maternal blood and to create the necessary conditions for noninvasive prenatal gene diagnosis. Methods The NRBC of peripheral blood of pregnant women was identified by benzidine staining and was obtained by micromanipulation. Genomic amplification of single NRBC was carried out by primer extension pre-amplification (PEP). The genotype of NRBC was analyzed by short tandem repeat (STR) Compare with parental genotype to determine the source of the cell. Results The peripheral blood samples from 28 pregnant women with mild beta thalassemia showed 4 ~ 13 / 5ml of NRBC in each sample. Each sample was identified with 2 ~ 8 / 5ml of NRBC and about 43.6% NRBC from the fetus. Conclusion STR genotype analysis after PEP can effectively identify the source of NRBC in peripheral blood of pregnant women, making it possible to diagnose prenatal gene using single fetal NRBC.