RhD血型的基因诊断及临床应用

Diagnosis and Clinical Application of RhD Genotyping

目的 :建立RhD血型基因诊断的方法并对胎儿RhD血型进行产前诊断。方法 :采用PCR方法 ,对 4 89例供血者 (其中Rh-2 3例 ,Rh+ 4 6 6例 )外周血标本和 2 7例胎儿羊水 /脐血标本进行RhD基因外显子 10及外显子 7特异性片段的扩增。结果 :凡扩增出 136bp一条特异性片段者判断为Rh-;扩增出 136bp和 186bp两条特异性片段者判断为Rh+ 。 2 3例Rh-供血者有 2 2例扩增出 136bp特异性片段 ,4 6 6例Rh+ 供血者均同时扩增出 136bp和 186bp特异性片段 ,该方法的灵敏度为 10 0 % ,特异度为 95 6 5 % ,假阳性率为 4 .35 %。 2 7例胎儿羊水 /脐血标本的扩增结果 ,1例Rh-,2 6例Rh+ 。结论 :PCR方法检测RhD基因型简便、快速 ,且和血清学检测结果吻合率高 ,可用于胎儿RhD血型的产前诊断。

Objective:To set up a method for determining RhD genotyping and prenatal diagnosis of the fetal RhD blood type.Methods:RhD-specific gene fragments of exon10 and exon7 were amplified in blood samples from 489 blood donors and 27 fetuses by polymerase chain reaction.Results:The 136bp product was amplified in 22 samples of 23 RhD negative blood donors.The 136bp and 186bp products were amplified in all 466 RhD positive blood donors.The study showed that the sensitivity of RhD genotyping was 100%,the specificity value was 95.65% and the false positive value was 4.35%.In 27 fetuses sampling,one of them was RhD negative,the others were RhD positive.Conclusions:Determination of RhD genotyping by polymerse chain reaction was simple,quick and coincident to that of serotyping.It could be used as a prenatal diagnosis for the Rhd fetal blood type.