Vox sanguinis · 2025
CD36 c.1328_1331dup: A variant causing platelet CD36 deficiency and its frequency in the Chinese population.
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Li Lilan, Wu Guoguang, Liang Liyang, Chen Jierun, Jiang Lihong, Zhong Zhoulin, Zhou Yan, Wu Justin
Аннотация
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.
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.