Incidence and molecular basis of CD36 deficiency in Shanghai population

Background CD 36 is a multifunctional membrane receptor and is expressed in several cell lines. Individuals who lack platelet ( PLT ) CD 36 are at risk for immunization against this antigen, leading to several clinical syndromes. This study aimed to investigate the frequency and molecular basis of CD 36 deficiency in S hanghai. Study Design and Methods Whole blood samples were collected from healthy blood donors, and the PLT s and monocytes were analyzed using flow cytometry to determine CD 36 deficiency type. After genomic DNA was extracted, E xons 3 to 14 of CD 36 gene including a part of relevant flanking introns were amplified. Direct nucleotide sequencing and sequence alignment were performed. The samples that showed mutations were confirmed by clonal sequencing. Results Of the 1022 healthy blood donors analyzed, 22 individuals failed to express CD 36 on PLT s; two of them expressed no CD 36 on their monocytes either. These results demonstrated that the frequencies of T ype I (lacking CD 36 expression on PLT s and monocytes) and T ype II (lacking CD 36 expression on PLT s only) CD 36 deficiency among the study population were 0.2 and 2.0%, respectively. Nucleotide sequencing analysis revealed nine different mutations including six mutations that were not yet reported. The most frequent mutations among the study population were 329‐330 delAC and 1228‐1239 delATTGTGCCTATT . Conclusion The study findings have confirmed the fact that the frequency of CD 36 deficiency in the C hinese population is slightly lower than that in other A sian countries. The identification of several new mutation types indicated the polymorphism of CD 36 gene in the S hanghai population.