中国南方汉族人群特殊O型个体的血清学特征和分子背景  

Serological Feature and Molecular Background of Special O Blood Group of Han People in Southern Chinese

作　　者：骆宏[1] 张润青[1] 魏玲[1] 廖志坚[1] 莫春妍[1] 王贞[1] 罗广平[1] LUO Hong;ZHANG Run-qing;WEI Ling;LIAO Zhi-jian;MO Chun-yan;WANG Zhen;LUO Guang-ping(Clinical Institute of Transfusion,Guangzhou Blood Center,Guangzhou 510095,China)

机构地区：[1]广州血液中心临床输血研究所,广东广州510095

出　　处：《中山大学学报（医学版）》2018年第4期521-525,共5页Journal of Sun Yat-Sen University:Medical Sciences

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O型个体的血清学特征和分子背景。【方法】收集ABO正反定型结果不一致的O型标本12例,采用试管法进行正反定型、H抗原物质检测、吸收放散等实验;PCR扩增ABO基因编码区外显子1-7,并进行直接测序;对于新发现的突变位点进行克隆测序;利用PDBviewer软件构建GTB酶蛋白突变体的3D模型,并对突变引发的GTB酶结构和功能变化进行分析。【结果】12例标本正定型均为O型,反定型抗-A减弱的2例、完全消失的3例,抗-B减弱的5例、完全消失的2例;红细胞与抗-H的凝集强度均≥3+;所有标本均不能吸收放散抗-A和抗-B;等位基因ABO*O01、ABO*O02、ABO*O06、ABO*O13在该类人群中出现频率较高;发现2例Ael02/O02基因型的个体;1条等位基因所含c.563G>A(p.R188H)为新的突变位点,3D模型表明该突变位于GTB酶的底物结合区,突变引起R188的氢键数目减少。【结论】特殊O型的血清学特征以血浆中的单个抗体减弱或消失为主;ABO*O01、ABO*O02、ABO*O06、ABO*O13是这类血型个体的主要等位基因;新的等位基因ABO*O77可通过影响GTB酶的活性导致B抗原的生成缺失。【Objective】To study the serological feature and molecular background of special O blood group.【Methods】12 blood samples with sero-typing discrepancy in ABO blood group were collected. The forward and reverse grouping test, H antigen determination and adsorption/elution test were performed with tubes method. Exons 1 to 7 of ABO gene were amplified with PCR, then direct sequencing was carried out. Cloning sequencing would be performed if novel mutation had been found. Three-dimensional（3 D）mutant glycosyltransferase B（GTB）structure was constructed and analyzed with PDBviewer software.【Results】All samples were typed as O group via forward group typing test, however, discrepancies exist between forward and reverse group typing test. H antigen could be detected and the agglutination strength was great than or equal to 3＋. Negative reactions were observed in adsorption/elution test in all samples. Sequencing results indicated that ABO＊O01, ABO＊O02, ABO＊O06, ABO＊O13 were the main alleles in these individuals and special genotype Ael02/O02 was found in two people, novel mutation c.563 G〉 A（p.R188 H） in exon 7 was found in one allele. 3 D models analysis of GTB showed that the novel mutation located in the combination area for substrate and could decrease the hydrogen bonds of R188.【Conclusion】Anti-A or anti-B in the plasma becomes to be weak or lacking is the serological feature of the special O group; ABO＊O01, ABO＊O02, ABO＊O06, ABO＊O13 are the main alleles of this special group; Mutation in ABO＊O77 may decrease the activity of GTB, leading to the lack of B antigen.

关 键 词：血型 血清学实验 分子背景 3D模型 糖基转移酶 

分 类 号：R341[医药卫生—基础医学]