特殊A/O基因型与O表型的关系  

Correlation between special A/O genotype and the O phenotype

作　　者：骆宏[1] 张润青[1] 廖志坚[1] 莫春妍[1] 魏玲[1] 梁明月[1] 谢钊[1] 罗广平[1] Luo Hong;Zhang Runqing;Liao Zhijian;Mo Chunyan;Wei Ling;Liang Mingyue;Xie Zhao;Luo Guangping(Institute of Clinical Transfusion Medicine, Guangzhou Blood Center, Guangzhou, Guangdong 510095, China)

机构地区：[1]广州血液中心临床输血研究所,510095

出　　处：《中华医学遗传学杂志》2019年第3期275-277,共3页Chinese Journal of Medical Genetics

基　　金：广东省医学科研基金项目(A2017568);广州市医学重点实验室项目.

摘　　要：目的探讨特殊A/O基因型与O表型的关系。方法收集ABO血型正定型为O型、反定型抗体减弱或消失的样本进行ABO血型基因的PCR-SSP检测,对检出A/O基因型的7例样本采用试管法复核正反定型、H抗原物质检测、吸收放散实验;扩增ABO基因编码区第1~7外显子,并将产物直接测序,测序结果与人类血型抗原基因突变数据库结果比对,确定基因型。结果7例样本经试管法复核正定型均为O型,反定型单纯抗-A减弱的5例、抗-A完全消失的1例,抗-A和抗-B同时减弱的1例;红细胞均检出H抗原物质;所有样本均不能吸收放散抗-A和抗-B;测序检出Ael02/O02基因型3例,Ael02/O13、Ael02/O65、Am04/O75、Ael06/O02基因型各1例。结论特殊A/O基因型可不表达A抗原物质而表现为O型,其ABO反定型以抗-A减弱或消失为主要特征,其中的等位基因以ABO*Ael02、ABO*O02为主;对正定型为O型同时反定型有单个抗体减弱或消失的样本应行血清学和测序鉴定。Objective To explore the correlation between special A/O genotype and the O phenotype. Methods Group O samples with partially reduced or lack of isoagglutinins were collected to determinate the ABO genotype with a PCR-sequence specific primer (PCR-SSP) assay. Seven samples with A/O genotype were selected for further study. Serological tests including forward and reverse typing, H antigen determination and adsorption/elution were carried out with a tube method. Genomic DNA was genotyped by amplifying and sequencing of the coding regions of exons 1 to 7 of the ABO gene. Results Seven samples were serotyped as group O by the forward typing test. However, reduced anti-A activity was found in 5 samples by the reverse typing test, reduced anti-A and anti-B activities were found in 1 sample, and no anti-A isoagglutinin activity was found with 1 sample. H antigen was determined in all samples by routine serologic method. Neither anti-A nor anti-B was eluted from red cells derived from all samples. Three samples were genotyped as Ael02/O02, whilst the remainders were Ael02/O13, Ael02/O65, Am04/O75, Ael06/O02, respectively. Conclusion Special A/O genotype may not express the A antigen, leading to the generation of group O red cells. Reduced or missed anti-A activity is the typical serological feature of this special group of O phenotype, for which ABO*Ael02 and ABO*O02 are the major alleles. Group O individuals with isoagglutinin detection problem should be grouped by serological tests and genomic DNA analysis.

关 键 词：A/O基因型 O表型 血清学实验 测序 

分 类 号：R440[医药卫生—诊断学] R446.6[医药卫生—临床医学]