RhCE血型基因分型与血清学分型的比较研究  

Comparison between genotyping and serological phenotyping in RhCE blood group

作　　者：周华友[1] 张印则[2] 孟庆宝 白旭华 王从容[5] 曹琼[5] 兰炯采[5] 

机构地区：[1]广州中医药大学第二附属医院 广东省中医院检验科,510120 [2]深圳血液中心 [3]深圳市人民医院 [4]新疆建设兵团中心血站 [5]广州南方医院

出　　处：《中华医学遗传学杂志》2008年第1期66-69,共4页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金（30271208）

摘　　要：目的对中国汉族、新疆维吾尔族和哈萨克族人的RHCE基因进行定型，并与血清学分型结果进行了比较。方法使用PCR-序列特异性引物技术对98例随机非血缘关系汉族RhD阳性样本和RhD和RHD均为阴性汉族人样本230例，新疆维吾尔族人样本72例、哈萨克族人样本18例进行RHCE基因定型。结果RhD阳性和RhD阴性样本中RHE／RHe等位基因定型结果都与其血清学结果相符；在中国汉族人中，利用RHCE基因第1外显子的nt48的C→G多态性来检测RHC等位基因将产生4．44％的错误，利用109bp插入序列这一多态性来检测RHC等位基因，将导致4．05％的漏检；表型为RhD阴性的72例随机非血缘关系维吾尔族人和18份哈萨克族人样本的RHE／RHe和RHC／RHc等位基因定型结果与血清学的一致，没有发现假阳性和假阴性。结论使用PCR-序列特异性引物技术对RHE／RHe和RHc进行基因定型结果准确，与血清学结果相符；利用RHCE基因第1外显子第48位多态性来检测RHC等位基因会因RHc在此位点的突变干扰而导致假阳性结果；利用109bp插入序列来检测RHC等位基因会因109bp的缺失而导致假阴性结果，对RHC等位基因定型必须用两种以上的多态性来检测。Objective To genotype the RHCE gene of Hans, Xinjiang＇s Uigurs and Kazakstans in China, and to compare the results of RHCE genotyping with that of RhCc/Ee phenotyping. Methods RHCE genes of 98 Hans with RhD positive and 230 Hans, 72 Uigurs and 18 Kazakstans with RhD/RHD negative were genotyped with PCR-sequence specific primer （SSP） technique. Results The results of RHE/RHe genotyping from samples with RhD positive and negative were in accord with that of phenotyping. It would result in 4.44% error using C→G polymorphism at nt48 of RHCE gene to genotype RHCE, and 4.05% failure of detection using the 109 bp insertion to detect RHCE gene in Chinese Hans. The results of RHE/RHe genotyping in unrelated 72 Uigurs and 18 Kazakstans with RhD phenotype were consistent with that of phenotyping, and false positive and false negative were not found in genotyping in Uigurs and Kazakstans tested. Conclusion The results of RHE/RHe and RHc genotyping were correct with PCR-SSP and accordant with that of phenotyping. Using the G48G polymorphism in exon 1 of RHCE to genotype RHC gene would result in false positive resulting from RHc mutation at this locus, and using the 109 bp insertion to genotype RHC gene would result in false negative because of the absence of the 109 bp. Therefore it is necessary to genotype RHC gene using more than two polymorphic loci.

关 键 词：RHCE基因 基因定型 表型 聚合酶链反应-序列特异性引物 

分 类 号：R450[医药卫生—治疗学] R446.6[医药卫生—临床医学]