RHCE基因结构研究

目的研究中国人RHCE基因结构特征。方法根据文献设计RHCE基因检测的引物,采用PCR-SSP法检测RhD阳性100例,RhD阴性300例的RHCE基因结构。结果RHE/e和RHC/c等位基因定型结果表明,RHE/e和RHc的定型结果与血清学的一致,没有发现假阳性和假阴性。利用RHCE基因外显子1的nt48的C→G多态性检测RHC等位基因将产生6.06%的假阳性,未发现假阴性。利用109bp插入序列这一多态性来检测RHC等位基因,总的假阴性率为4.00%,没有发现假阳性。结论RHE/e和Rhc基因定型可获得准确结果,对RHC等位基因的定型必须使用2种方法或利用至少2个以上的多态性位点。

Studies on RHCE gene structure

Objective To study RHCE gene structure of Chinese people. Methods RHCE gene PCR primers were designed according to references published. One hundred samples of RhD positive and 300 samples of RhD negative were studied for RHCE gene structure by PCR-SSP. Results Genotyping of RHE/e and RHC/c showed complete concordance between genotyping and serology for RhE/e and Rhc antigens, no false-positive or false-negative results was obtained. A total of 6. 06 % of serologically typed C negative donors gave false-positive results with the C48G polymorphism, and no false-negative results were observed. A total of 4. 00% of serologically typed C positive donors gave false-negative results with the 109 bp insertion polymorphism in intron 2 of RHCE , and no false positive results were obtained. Conclusion RHE/e and RHc genotyping could get correct results, but for RHC genotyping, two methods or more than two polymorphisms are required.