Correlation between type Ⅱ CD36 deficiency and intron polymorphism / 中国输血杂志

ABSTRACT

【Objective】 To study the correlation between type ⅡCD36 deficiency and the polymorphism of intron sequence. 【Methods】 A total of 516 random healthy platelet donors from Liaoning Blood Center were involved 241 of them were tested for CD36 antigen and CD36 gene sequence; the remaining 275 cases were sequenced only. CD36 antigen was detected by flow cytometry, and gene sequence was analyzed by PCRamplification and sequencing. 【Results】 Among the 241 samples, 1 case of type Ⅰ deficiency and 4 cases of type Ⅱ deficiency were detected, with frequencies of 0.41% and 1.66%, respectively. There was no nucleotide change in the coding region of 3 cases of typeⅡdeficiency. All individuals with type Ⅱ deficiency shared a common polymorphism in the intron 3, that is, carried (TG) 11 and 12 linked variants, and both were located in the same allele. The gene frequency of (TG)11 in the 516 random population was only 11.72%, which was much lower than 30.43% of (TG)13. The gene frequency of 12 linked variants in the random population was 8.81%. Almost all 12 linked variants occurred simultaneously with (TG)11, but only about 72.7% of (TG)11 were tandem with 12 linked variants. Flow cytometry showed that the expression of CD36 antigen on platelet in samples carrying only (TG)11 was comparable to that of normal samples, while the vast majority of samples carrying both (TG)11 and 12 linked variants had significantly lower CD36 antigen levels. 【Conclusion】 The (TG)11 in the intron 3 region is not platelet-specific silent allele, but there are some indirect correlations. There may be multiple platelet-specific silent allele.