Spence W C, Maddalena A, Demers D B, Bick D P
Genetics & IVF Institute, Fairfax, Virginia.
Obstet Gynecol. 1995 Feb;85(2):296-8. doi: 10.1016/0029-7844(94)00382-N.
The objective of this study was to evaluate the accuracy of a DNA-based testing methodology in determining the RhD genotypes of fetuses at risk for RhD hemolytic disease. We designed a multiplex polymerase chain reaction-based test based on recent RhD and RhCE sequence information. To improve the accuracy of the results, two different portions of the RhD gene were examined. Deoxyribonucleic acid was extracted from fetal specimens, portions of the RhD gene were amplified by the polymerase chain reaction, and the amplified product was run on a polyacrylamide gel to look for the presence or absence of the RhD gene. We tested 67 amniotic fluid and two chorionic villus specimens to determine the fetal RhD genotype in pregnancies at risk for RhD hemolytic disease. Forty-seven of the 69 specimens were determined to be Rh-positive, and 22 were Rh-negative. Fifty of the 69 fetal specimens--31 Rh-positive and 19 Rh-negative--were serotyped at birth. In all 50, there was complete correlation between the DNA analysis and the serotyping results. RhD gene analysis is a rapid and reliable method that provides an accurate fetal genotype to aid in the prenatal care of RhD-alloimmunized women.
本研究的目的是评估一种基于DNA的检测方法在确定有患RhD溶血病风险胎儿的RhD基因型方面的准确性。我们基于最新的RhD和RhCE序列信息设计了一种基于多重聚合酶链反应的检测方法。为提高结果的准确性，对RhD基因的两个不同部分进行了检测。从胎儿样本中提取脱氧核糖核酸，通过聚合酶链反应扩增RhD基因的部分片段，将扩增产物在聚丙烯酰胺凝胶上进行电泳，以查找RhD基因的有无。我们检测了67份羊水样本和2份绒毛膜绒毛样本，以确定有患RhD溶血病风险的妊娠中胎儿的RhD基因型。69份样本中有47份被确定为Rh阳性，22份为Rh阴性。69份胎儿样本中的50份（31份Rh阳性和19份Rh阴性）在出生时进行了血清分型。在所有50份样本中，DNA分析结果与血清分型结果完全相符。RhD基因分析是一种快速且可靠的方法，可为RhD同种免疫女性的产前护理提供准确的胎儿基因型。
