弱D72血型的血清学特征及分子生物学分析

发布时间：2018-11-19 15:03

【摘要】：目的了解广州地区人群中弱D72血型的血清学特征及分子遗传背景。方法从广州血液中心献血者人群中收集了62人份D变异型标本,采用多重连接依赖的探针扩增(MLPA)技术做RHD及RHCE基因分型;对于MLPA检测不到的RHD突变型等位基因,对其10个外显子做直接测序分析,并采用D抗原表位分析试剂盒(DScreen)及其他7种单克隆抗-D做D抗原表位血清学检测。结果在62例D变异型标本中,共发现26例弱D表型,其中弱D72突变型等位基因5例[占8.1%(5/62)],4例为RHD*weak D type 72/RHD*01N.01(RHD基因缺失)和Ccee,1例为RHD*weak D type 72/RHD*DVI.3和CCeee。取1例RHD*weak D type 72/RHD*01N.01的红细胞标本做D抗原表位血清学检测:其与D-Screen试剂盒的9种单克隆抗-D均呈阳性反应,反应强度为1+~2+,与其余7种单克隆抗-D也均呈阳性反应,反应强度为w+~1+。结论血型血清学分析初步提示弱D72血型D抗原表位完整,但该血型个体在免疫刺激下是否不会产生抗-D仍需进一步临床证据证实。
[Abstract]:Objective to study the serological characteristics and molecular genetic background of weak D 72 blood group in Guangzhou population. Methods A total of 62 D-variant samples were collected from blood donors in Guangzhou Blood Center. RHD and RHCE genotyping were performed by multiplex ligation-dependent (MLPA) amplification technique. Ten exons of RHD mutant alleles which could not be detected by MLPA were directly sequenced. D-antigen epitope analysis kit (DScreen) and 7 other monoclonal anti-D were used to detect D antigen epitopes. Results A total of 26 cases of weak D phenotype were found in 62 D variant samples, of which 5 cases (8.1%) were weak D 72 mutant alleles, 4 cases were RHD*weak D type 72/RHD*01N.01 (RHD gene deletion) and Ccee,. One case was RHD*weak D type 72/RHD*DVI.3 and CCeee.. A red blood cell specimen of RHD*weak D type 72/RHD*01N.01 was taken for the serological detection of D antigen epitopes. All of them showed positive reaction with 9 kinds of monoclonal anti-D of D-Screen kit, and the reaction intensity was 1 ~ 2. It also showed positive reaction with other 7 monoclonal anti-D, the reaction intensity was w ~ 1. Conclusion the blood group serological analysis indicates that the D antigen epitope of weak D72 blood group is intact, but the further clinical evidence is needed to confirm whether the blood group individual will not produce anti-D under immune stimulation.
【作者单位】：广州血液中心临床输血研究所;广东省第二人民医院输血科;
【基金】：广州市科技计划项目(201607010027) 广州市血液安全重点实验室项目(201509010009)
【分类号】：R446.6

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