中国输血杂志2025,Vol.38Issue(5):621-628,8.DOI:10.13303/j.cjbt.issn.1004-549x.2025.05.005
陕西地区血小板基因供者库CD36抗原表达差异及分子遗传特征研究
Differential expression and molecular genetic characteristics of CD36 antigen in platelet donor database in Shaanxi province,China
摘要
Abstract
Objective To screen the frequency of CD36 antigen expression in platelet donor database in Shaanxi prov-ince and analyze the molecular genetic characteristics of samples with CD36 antigen deficiency and low expression.Methods A total of 525 platelet donors samples were randomly collected during May 2023.CD36-FITC monoclonal antibody was used for immunofluorescence labeling,and flow cytometry was applied to detect the expression of CD36 antigen on platelets.For samples with CD36 antigen deficiency on platelets,the expression of CD36 on monocytes was further detected.Samples with CD36 antigen deficiency and low expression were sequenced and analyzed.Results Among the 525 blood samples,99.24%(521/525)showed positive expression of CD36 antigen.There were differences in the expression intensity of CD36 antigen,with low expression accounting for 3.43%(18/525)and CD36 antigen deficiency accounting for 0.76%(4/525),all of which were type Ⅱ deficiency.The exon mutation frequency of CD36 type Ⅱ deficiency and low expression sam-ples was 31.82%(7/22),and the exon mutation types were 121-1_126delGCAAGTT,329-330delAC,1142T>G,1204-1246dupl 43bp,1221G>A,and 1228-1239delATTGTGCCTATT.All four cases of CD36 type Ⅱ deficiency had a 121-6 T>C mutation in intron 3.All CD36 low expression samples had a mutation of 282-10A>G,and 121-6T>C mutation rate was 61.1%(11/18).Conclusion There were differences in the expression of CD36 antigen in the platelet donor database in Shaanxi province,which may be caused by multiple molecular genetic variations.The frequency of CD36 antigen deficiency in Shaanxi was lower than that of Han,Zhuang and Yao populations in southern China.This study provides references for solving the CD36 antibody mediated transfusion reaction and auxiliary treatment of diseases caused by CD36 antigen deficiency in the future.It also provides a basis for investigating the molecular mechanisms of CD36 deficiency and low expression.关键词
CD36抗原Ⅱ型缺失/CD36抗原低表达/基因突变/外显子/内含子/剪接子区域Key words
CD36 antigen typeⅡdeficiency/CD36 antigen low expression/gene mutation/exon/intron/splice site region分类
临床医学引用本文复制引用
王天菊,齐珺,王满妮,李昱辉,尚利侠,陈乐,王小芳..陕西地区血小板基因供者库CD36抗原表达差异及分子遗传特征研究[J].中国输血杂志,2025,38(5):621-628,8.基金项目
陕西省重点研发计划一般项目(2022SF-098) (2022SF-098)
陕西省卫生健康高层次人才青年人才培育计划项目 ()
西安市科技计划医学研究项目(23YXYJ0064) (23YXYJ0064)