苏州地区献血者血小板CD36抗原表型筛查及基因突变分析  

Phenotype screening and gene mutation analysis of platelet CD36 antigen:blood donors in Suzhou area

作　　者：何红红 陈婧 陈晔洲 王玉珏 汤龙海[1] 王红梅[2] 丁少华[2] 魏双施[2] 田晶晶[2] 段生宝[2] HE Hong-hong;CHEN Jing;CHEN Yezhou;WANG Yujue;TANG Longhaix;WANG Hongmei;DING Shaohua;WEI Shuang-shi;TIAN Jingjing;DU AN Shengbao(Suzhou Blood Center,Suzhou 215006,China;Suzhou Institute of Biomedical Engineering and Technology Chinese Academy of Sciences)

机构地区：[1]苏州市中心血站,江苏苏州215006 [2]中国科学院苏州生物医学工程技术研究所

出　　处：《中国输血杂志》2021年第6期585-589,共5页Chinese Journal of Blood Transfusion

基　　金：中国输血协会威高科研基金资助面上项目(CSBT-WG-2020-06);苏州市科教兴卫项目(KJXW2017056)。

摘　　要：目的了解苏州地区血小板CD36抗原表达情况及其抗原缺失频率和基因多态性特征,为建立血小板CD36阴性表型资料库提供参考依据。方法随机选取805例苏州市中心血站无偿献血者抗凝全血,流式细胞术筛查血小板和单核细胞表面CD36抗原的表达,分析抗原缺失类型,并结合基因组DNA测序,检测导致CD36抗原缺失的基因突变类型。结果对805例无偿献血者标本CD36抗原筛查发现,苏州地区血小板表面CD36抗原缺失频率为2.48%(20/805),其中Ⅰ型缺失(血小板和单核细胞均不表达CD36)占比10%(2/20),Ⅱ型缺失(仅血小板不表达CD36)占比90%(18/20)。基因测序共发现10例标本的CD36基因发生突变,突变类型为7种,包括3例329330 d^(el)AC、1例12281239 d^(el)ATTGTGCCTATT、2例1163 A>T,329330 d^(el)AC+11721183 d^(el)TATTGGTCAAGC和287 G>C+329330 d^(el)AC复合突变各1例,另外还发现745 A>G,806 C>T新型基因突变各1例。结论苏州地区血小板CD36抗原缺失频率与已报道国内南方地区相近,但基因突变位点稍有区别。在此基础上建立血小板CD36阴性者表型资料库,可为由CD36抗体引起输血反应的患者提供阴性血小板,以提高临床血小板输注效果。Objective To investigate the expression of CD36 antigen in Suzhou area, analyze the type of antigen deficiency and gene mutation, so as to provide references for the establishment of CD36 negative donor registry in Suzhou. Methods Anticoagulant whole blood samples(805 cases) were randomly collected from healthy blood donors in Suzhou Blood Center. The expression of CD36 antigen on platelet and monocyte was analyzed by flow cytometry to determine the type of CD36 deficiency. The gene mutation type of platelet CD36 antigen-deficient was performed by genomic DNA sequencing.Results The CD36 deficiency frequency on platelet was 2.48%(20/805), among which TypeⅠ(lacking CD36 expression both on platelet and monocyte) and TypeⅡ(lacking CD36 expression on platelet only) CD36 deficiency accounted for 10%(2/20) and 90%(18/20), respectively. CD36 gene mutations were found in 10 samples, including 3 cases of 329330 d^(el)AC, 1 case of 12281239 d^(el)ATTGTGCCTATT and 2 cases of 1163 A>T;1 case of 329330 d^(el)AC+11721183 d^(el)TATTGGTCAAGC and 287 G>C+329330 d^(el)AC heterozygous mutation. In addition, 1 case of 745 A>G and 1 case of 806 C>T mutations were novel, and not yet reported. Conclusion Results showed that the frequency of CD36 antigen deficiency in Suzhou were similar to that reported in southern China, but the mutation sites were slightly different. The establishment of CD36 negative platelet registry could provide negative platelets for patients with transfusion reactions caused by anti-CD36 antibody and improve the effect of clinical platelet transfusion.

关 键 词：CD36抗原 缺失 基因突变 资料库 

分 类 号：R457.11[医药卫生—治疗学] R331.143[医药卫生—临床医学]