CD36 c.1328_1331dup: A variant causing platelet CD36 deficiency and its frequency in the Chinese population

Abstract Background and Objectives CD36 encodes glycoprotein CD36, with variants causing reduced or absent protein expression. A CD36 variant leading to platelet CD36 deficiency was identified in a Chinese male blood donor, and its molecular basis and population distribution were studied. Materials and Methods Exons 3–14 of the CD36 gene from the identified variant were analysed using Sanger sequencing. CD36 complementary DNA (cDNA) was cloned and sequenced, and a eukaryotic cell line expressing the variant CD36 cDNA transcript was established to assess its protein expression using Western blotting (WB) and flow cytometry (FCM). A genotyping assay was developed and used to type 600 random individuals from Guangxi, China, for the variant. Results Molecular analysis identified that the subject carries a heterozygous CD36 variant, c.1328_1331dup; p.Glu445Aspfs*65, and expressed both the variant (c.1328_1331dup) and wild‐type CD36 messenger RNA (mRNA) transcripts. WB and FCM confirmed that the eukaryotic cell line expressing the CD36 c.1328_1331dup variant failed to produce the CD36 protein. The incidence of the CD36 variant in Guangxi was 0.33% with an allele frequency of 0.001667. Conclusion This study identified a CD36 variant, c.1328_1331dup; p.Glu445Aspfs*65, responsible for platelet CD36 deficiency, which is present in 0.33% of the Guangxi population.