Xu Xianguo, Liu Ying, Hong Xiaozhen, Chen Shu, Ma Kairong, Lan Xiaofei, Ying Yanling, He Ji, Zhu Faming, Lv Hangjun
Blood Center of Zhejiang Province, Key Laboratory of Blood Safety Research, Ministry of Health, Hangzhou, Zhejiang Province, China.
Blood Transfus. 2014 Oct;12(4):557-64. doi: 10.2450/2014.0209-13. Epub 2014 Jun 12.
The relationship between CD36 expression level in platelets and polymorphism of the CD36 gene still needs to be explored. Here, we investigated polymorphisms of the CD36 gene and CD36 expression level in platelets in the Chinese Han population.
A total of 477 samples were sequenced for exons 2 to 14 of the CD36 gene using a polymerase chain reaction sequence-based typing method. In 192 of these individuals the expression levels of CD36 antigen were analysed by flow cytometry. The genotype-phenotype relationship in platelets was analysed.
A total of 22 variants of the CD36 gene were identified, of which five variants (111 A>T, 681 C>A, 1172-1183 del12b, 1236 delT and 1395 A>C) were novel variations, and nine were also found in single nucleotide polymorphism database (dbSNP) but had not been confirmed in individuals with CD36 deficiency. Two variants (329-332 delAC and 1228-1239 del12bp) in the coding region are the most frequent mutations in the Chinese population. Type II CD36 deficiency was identified in seven of 192 individuals, giving a frequency of 3.6%. Individuals with CD36 variations or wild-type genotypes both showed CD36 antigen negative, low-level and high-level expression patterns in platelets. The frequency of the nt-132 A>C polymorphism in the 5'-UTR is relatively high in the Chinese population (0.3516): the expression of CD36 was lower in individuals with nt-132 A>C than in those with the wild-type genotype.
The distribution of CD36 gene variants in the Chinese population is different from that previously reported. The levels of expression of CD36 antigen in platelets are not determined directly by the genotypes of the CD36 coding region. This suggests that the molecular basis of type II CD36 deficiency may be derived from combined effects of coding region and potential cis-regulatory elements in the 5'-UTR of the CD36 gene.
血小板中CD36表达水平与CD36基因多态性之间的关系仍有待探索。在此，我们研究了中国汉族人群中CD36基因的多态性及血小板中CD36的表达水平。
采用基于聚合酶链反应序列分型法对477份样本的CD36基因外显子2至14进行测序。其中192名个体通过流式细胞术分析CD36抗原的表达水平。分析血小板中的基因型-表型关系。
共鉴定出22种CD36基因变异，其中5种变异（111 A>T、681 C>A、1172 - 1183 del12b、1236 delT和1395 A>C）为新变异，9种在单核苷酸多态性数据库（dbSNP）中也有发现，但在CD36缺陷个体中未得到证实。编码区的两种变异（329 - 332 delAC和1228 - 1239 del12bp）是中国人群中最常见的突变。192名个体中有7名被鉴定为II型CD36缺陷，频率为3.6%。具有CD36变异或野生型基因型的个体在血小板中均表现出CD36抗原阴性、低水平和高水平表达模式。5'-UTR中nt - 132 A>C多态性在中国人群中的频率相对较高（0.3516）：具有nt - 132 A>C的个体中CD36的表达低于野生型基因型个体。
中国人群中CD36基因变异的分布与先前报道的不同。血小板中CD36抗原的表达水平并非直接由CD36编码区的基因型决定。这表明II型CD36缺陷的分子基础可能源于CD36基因编码区和5'-UTR中潜在顺式调控元件的联合作用。
