Wu Jun-Jie, Hong Xiao-Zhen, Ma Kai-Rong, Xu Xian-Guo, Fu Qi-Hua, Yan Li-Xing
Institute of Transfusion Medicine, Blood Center of Zhejiang Province, Key Laboratory of Blood Safety Research, Ministry of Health, Hangzhou 310006, China.
Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2006 Oct;14(5):1017-9.
In order to establish a genotyping method for DEL phenotype in Zhejiang Han population, an AS-PCR method was developed according to the RHD 1227A allele sequence. Its specificity and sensitivity were assessed in two Rh negative populations whose RHD 1227A or DEL phenotype status was known. The results showed that in evaluation of the method by detecting 50 RHD 1227A positive and 50 RHD 1227A negative individuals, the genotyping method displayed a sensitivity of 100% and a specificity of 100%; in evaluation of the method by detecting 33 DEL positive and 89 DEL negative individuals, the sensitivity was 100%, however, there were two serologically negative samples which were confirmed as positive using genotyping method. After re-testing these two samples with serological method and sequence analysis, it was found that original serological method gave false negative results and genotyping method still showed 100% specificity. The minimal target DNA concentration of this genotyping method is 8.13 ng/microl. In conclusion, designed genotyping method can be used to identify DEL phenotype efficiently in Zhejiang Han Rh negative population.
为建立浙江汉族人群DEL血型表型的基因分型方法，根据RHD 1227A等位基因序列开发了一种等位基因特异性聚合酶链反应（AS-PCR）方法。在两个已知RHD 1227A或DEL血型表型状态的Rh阴性人群中评估了其特异性和敏感性。结果显示，在检测50例RHD 1227A阳性和50例RHD 1227A阴性个体对该方法进行评估时，基因分型方法的敏感性为100%，特异性为100%；在检测33例DEL阳性和89例DEL阴性个体对该方法进行评估时，敏感性为100%，然而，有两个血清学检测为阴性的样本经基因分型方法确认为阳性。用血清学方法和序列分析对这两个样本重新检测后，发现原来的血清学方法给出了假阴性结果，而基因分型方法的特异性仍为100%。该基因分型方法的最低目标DNA浓度为8.13 ng/μl。总之，所设计的基因分型方法可有效用于浙江汉族Rh阴性人群中DEL血型表型的鉴定。
