CD36 c.1328_1331dup: A variant causing platelet CD36 deficiency and its frequency in the Chinese population
Lilan Li1, Guoguang Wu1, Liyang Liang1
1Nanning Institute of Transfusion Medicine, Nanning Blood Center, Nanning, Guangxi, China.
Insights
A novel CD36 variant, c.1328_1331dup, causes platelet CD36 deficiency. This genetic variant was found in 0.33% of the population in Guangxi, China.
Area of Science:
- Genetics
- Molecular Biology
- Hematology
Background:
- CD36 glycoprotein plays a crucial role in platelet function.
- Genetic variants in CD36 can lead to reduced or absent protein expression, impacting platelet characteristics.
Purpose of the Study:
- To investigate the molecular basis of a newly identified CD36 variant associated with platelet CD36 deficiency.
- To determine the population distribution of this CD36 variant in Guangxi, China.
Main Methods:
- Sanger sequencing was used to analyze the CD36 gene variant.
- Complementary DNA (cDNA) was cloned and sequenced, and a cell line expressing the variant was created.
- Western blotting (WB) and flow cytometry (FCM) assessed protein expression, and a genotyping assay determined variant incidence.
Main Results:
- A heterozygous CD36 variant, c.1328_1331dup; p.Glu445Aspfs*65, was identified, producing both variant and wild-type CD36 messenger RNA (mRNA) transcripts.
- The variant CD36 transcript failed to produce detectable CD36 protein in the engineered cell line.
- The CD36 variant was present in 0.33% of individuals in Guangxi, with an allele frequency of 0.001667.
Conclusions:
- The identified CD36 variant, c.1328_1331dup; p.Glu445Aspfs*65, is responsible for platelet CD36 deficiency.
- This variant occurs at a frequency of 0.33% in the Guangxi population, highlighting its clinical relevance.
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.
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