Cotorruelo C, Biondi C, García Borrás S, Di Mónaco R, Martino W, Racca A
Area Inmunología, Facultad de Ciencias Bioquímicas y Farmacéuticas, Universidad Nacional de Rosario, Suipacha 531, 2000 Rosario, Argentina.
Medicina (B Aires). 2001;61(1):76-8.
The aim of this work was to determine the presence of the RHD gene in fetal cells obtained from amniotic fluid (AF). We studied 65 samples of AF, 11 from RhD- mothers sensitized with anti-D. The fetal origin of the DNA was confirmed with the analysis of 1 VNTR locus and 3 STR loci in DNA samples from AF and maternal blood. The RHD genotyping was performed in non contaminated samples (n = 62) using a multiplex PCR strategy that yields 3 amplification products from RhD+ phenotypes and 1 DNA fragment from RhD- phenotypes. We genotyped 54 RhD+ fetuses (8 from RhD- sensitized mothers) and 8 RhD- fetuses (3 from RhD- sensitized mothers). Fetal DNA genotyping allows the diagnosis, from a single amniocentesis, of fetuses at real risk of hemolytic disease of the newborn. When the fetus is determined to be RhD- all invasive procedures can be avoided.
这项工作的目的是确定从羊水（AF）中获取的胎儿细胞中RHD基因的存在情况。我们研究了65份羊水样本，其中11份来自对D抗原致敏的RhD阴性母亲。通过对羊水和母血DNA样本中的1个VNTR位点和3个STR位点进行分析，证实了DNA的胎儿来源。使用多重PCR策略对无污染样本（n = 62）进行RHD基因分型，该策略从RhD阳性表型产生3个扩增产物，从RhD阴性表型产生1个DNA片段。我们对54例RhD阳性胎儿（8例来自RhD阴性致敏母亲）和8例RhD阴性胎儿（3例来自RhD阴性致敏母亲）进行了基因分型。胎儿DNA基因分型能够通过一次羊膜穿刺术诊断出真正有患新生儿溶血病风险的胎儿。当确定胎儿为RhD阴性时，可避免所有侵入性操作。
