Lo S-C, Lin K-H, Hsieh H-H, Lin D-T, Hu C-Y
Department of Laboratory Medicine, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan.
Taiwan Blood Services Foundation, Taipei, Taiwan.
Vox Sang. 2016 Apr;110(3):236-43. doi: 10.1111/vox.12356. Epub 2015 Nov 3.
New CD36 mutations are constantly being identified, although no study has specifically targeted a Taiwanese population. CD36 deficiency can result in dyslipid state and slow clearance of chylomicron. This could be linked to more frequent lipemic donations.
We used flow cytometric methods to study the CD36 deficiency in 640 regular volunteer platelet apheresis donors from Taipei blood centre. The coding exons of CD36 gene were sequenced in CD36-deficient individuals, and the allele frequencies of CD36 variants were determined in the larger population by mutation-specific PCR and oligonucleotide hybridization. Visual inspection of lipemic plasma was routinely performed on samples taken before commencement of apheresis. Individuals found to have lipemic plasma are deferred until next donation. We investigated the link between positive lipemic deferral record and low platelet CD36 expression status.
We found four donors (0·6%) with type I CD36 deficiency (both platelets and monocytes CD36(null) ) and six (1·0%) with type II CD36 deficiency (PLT: CD36(null) , monocyte: CD36(low) ). Six CD36 genetic variants were identified, two of them were novel, all but one are found exclusively in CD36(null) and CD36(low) expressors. Subjects with CD36 genetic variants also displayed deficient or reduced CD36 on monocytes. Donors with null or low PLT CD36 expression were more likely to have a lipemic deferral record than control subjects with normal PLT CD36 expression (X(2) = 27·36, odds ratio = 2·6, 95% conference interval: 1·8-3·8, P < 0·0001).
Through this study, we established a donor registry to supply CD36-negative platelets for patients in need.
尽管尚无专门针对台湾人群的研究，但新的CD36突变不断被发现。CD36缺乏可导致血脂异常和乳糜微粒清除缓慢。这可能与更频繁的脂血献血有关。
我们采用流式细胞术方法研究了台北血液中心640名定期志愿血小板单采捐献者的CD36缺乏情况。对CD36缺乏个体的CD36基因编码外显子进行测序，并通过突变特异性PCR和寡核苷酸杂交在更大人群中确定CD36变体的等位基因频率。在单采开始前采集的样本上常规进行脂血血浆的目视检查。发现有脂血血浆的个体推迟到下次献血。我们调查了脂血推迟记录阳性与低血小板CD36表达状态之间的联系。
我们发现4名捐献者（0.6%）患有I型CD36缺乏（血小板和单核细胞CD36均为阴性），6名（1.0%）患有II型CD36缺乏（血小板：CD36阴性，单核细胞：CD36低表达）。鉴定出6种CD36基因变体，其中2种是新的，除一种外，其余均仅在CD36阴性和CD36低表达者中发现。具有CD36基因变体的受试者单核细胞上也显示CD36缺乏或减少。血小板CD36表达为阴性或低表达的捐献者比血小板CD36表达正常的对照受试者更有可能有脂血推迟记录（X² = 27.36，比值比 = 2.6，95%置信区间：1.8 - 3.8，P < 0.0001）。
通过本研究，我们建立了一个供者登记库，为有需要的患者提供CD36阴性血小板。
