摘要
目的探讨变异RhCE抗原的分子背景及RHCE基因的遗传学特征与基因多态性。方法采用单克隆抗-C、-c、-E和-e试剂检测10 373例RhD阳性和635例RhD阴性献血者的RhCE表型;选择942例标本PCR-SSP技术做RHCE基因分型,对基因分型与血清学分型不一致标本采用PCR-SSP检测22个主要RHCE变异等位基因,部分RHCE等位基因采用测序技术鉴定。结果共有54例标本(占94.27%)基因分型结果与血清学表型结果不一致,经PCR-SSP检测出22种与弱表达抗原相关的RHCE等位基因变异体,经血清学复检有36例标本RhCE抗原存在弱反应或极弱反应。结论在血清学检测时表达弱反应的RhCcEe抗原标本中检出多种RHCE等位基因类型,变异的等位基因可以影响基因分型预测血型抗原的准确性:RhCE表型和基因型不一致的原因可能由变异的等位基因或未发现的等位基因引起。
Objective To analyze the inconsistency between serological typing results and RJ-I phenotyping results. Study the molecular background of variant RhCE antigens by analyzing the leading RHCE variants alleles, and to re- search RHCE genetic characteristics and genetic structures. Methods Rh phenotype of 10 373 RhD positive and 635 RhD negative donors were determined with monoclonal anti-C,-c,-E, and -e reagents. And rapid RttCE genotyping testing in 942 donors were conducted via PCR-SSP. And further PCR-SSP screening for 22 RttCE variants alleles were done for cases showed inconsistency between serologic reaction patterns and RH phenotyping results. Further analysis of the specific RttCE variants alleles were identified after sequence analysis. Results The genotype of 54 samples did not always reflect their phenotypes. The 22 RttCE alleles in CcEe status with distinct single nucleotide substitutions were observed. And 54 these blood donors samples were tested again for antigen determination, RhCE antigen showed diminished reactivity, or very weak antigens observed in 36 of these donors. Conclusion A large number of different alleles have CcEe typing prob- lems. Variant RHCE alleles were present in weaken or lacking expression of C, c, E, and e antigens by routine serologic testing. Variant alleles may interfere with correct antigen prediction by molecular methods. When genotype does not correlate with serological phenotype, may suggest the results of a variant or an unknown RHCE allele. Key Words ： RhCE antigen;RhCE phenotype; RHCE genotype;Allele Variant; Serologic testing; Genotyping
出处
《中国输血杂志》
CAS
CSCD
北大核心
2012年第11期1155-1160,共6页
Chinese Journal of Blood Transfusion
