中国输血杂志2025，Vol.38Issue(5)：629-636,8.DOI:10.13303/j.cjbt.issn.1004-549x.2025.05.006
新疆地区CD36抗原缺失的调查及分子机制研究
Frequency and molecular basis of CD36 deficiency in Xinjiang,China
摘要
Abstract
Objective To investigate the distribution characteristics of CD36 antigen in healthy individuals in Xinjiang,China and analyze the molecular mechanisms underlying CD36 deficiency.Methods Flow cytometry was used to assess CD36 antigen expression on platelets from 881 healthy individuals who underwent physical examinations between June and August 2023.Differences in CD36 antigen distribution among ethnic groups were compared,and genotyping and third-gen-eration sequencing were conducted on samples with CD36 deficiency.Results Among the 881 samples,4 cases(0.5％)of CD36 type Ⅱ deficiency were identified.The deficiency frequency was 0.7％(3/430)in Han individuals and 0.3％(1/363)in Uygur individuals,with no statistically significant difference between the two groups(P>0.05).No mutations were detected in the coding regions of the deficient samples.Two samples exhibited a(TG)11 in intron 3.Among the 12 linked mutation sites,g.55589 G>A was mutated to g.55589G Del,while g.55593 A del did not occur;however,g.55591A>T was observed nearby.Additionally,52742insGAAAA was present in 100％of the(TG)11 haplotypes,potentially represen-ting a novel linked mutation.Conclusion This study indicates that the positive frequency of CD36 antigen in Xinjiang is relatively high,suggesting a low risk of alloimmune diseases in clinical practice.The(TG)11 in intron 3 is not universally present in all CD36 type Ⅱ deficiency cases,and the number of linked mutation sites extends beyond the previously reported 12.关键词
CD36/流式细胞术/三代基因测序Key words
CD36/flow cytometry/the third-generation sequencing分类
医药卫生引用本文复制引用
邱进,李菲,李强,王儒彬,斯看德尔·艾白都拉,刘静,陈伟..新疆地区CD36抗原缺失的调查及分子机制研究[J].中国输血杂志,2025,38(5):629-636,8.基金项目
新疆维吾尔自治区自然科学基金(2022D01C638、2022D01C637) （2022D01C638、2022D01C637）
新疆维吾尔自治区"天山英才"医药卫生高层次人才项目(TSYC202401B157) （TSYC202401B157）
