The study findings have confirmed the fact that the frequency of CD36 deficiency in the Chinese population is slightly lower than that in other Asian countries. The identification of several new mutation types indicated the polymorphism of CD36 gene in the Shanghai population.

The prevalence of IgAD in Chinese in this study is markedly lower than in Caucasians. This is the first study to investigate the genetics of IgAD in the Mongoloid population and two-thirds of the Chinese IgAD donors showed a mixture of Caucasian IgAD risk haplotypes. The low prevalence of IgAD could potentially be due to the low frequency of the disease associated risk haplotypes in China.

Human platelet antigens (HPAs) are platelet-specific alloantigens that cause alloimmunization. Alloantibodies induced via pregnancy and transfusion may result in various clinical syndromes. The monoclonal antibody-specific immobilization of platelet antigens (MAIPA) assay is the gold standard for the detection and identification of HPA antibodies. The present study aimed to develop standardized quantitative MAIPA assays for antibodies against HPA-1a, 3a, and 5b. MAIPA protocol was applied on serial dilutions of standard or reference reagents containing antibodies against HPA-1a, 3a, and 5b. Optimal experimental parameters were determined, and standard curves were constructed with a linear regression. The sensitivity, specificity, and reproducibility of the assays were also evaluated. The optimum reagents and conditions for the MAIPA assays were decided through repeated testing and comparison. The intra-assay coefficients of variation (CVs) are 1.3~3.6%, 2.7~5.2%, and 4.7~5.3%; the inter-assay CVs are 4.0~5.6%, 4.4~5.9%, and 3.2~6.3%, respectively, for HPA-1a, HPA-3a, and HPA-5b antibodies. In specificity tests, some monoclonal antibodies and sera with other antibodies were tested and no obvious positive result was observed. The standardized quantitative MAIPA assays for antibodies against HPA-1a, 3a, and 5b have good sensitivity, reproducibility, and specificity. They have important application value in clinical diagnosis of alloimmunization disease caused by HPA antibodies and safe transfusion of platelets.

Obtaining reference DNA for low-frequency HPAs is very difficult, and the successful construction of reference plasmids for the six HPA systems may solve this problem. Establishment of this panel has laid the foundation for future research on HPA genotyping.