成都地区献血人群CD36基因突变频率的调查  

Investigation of CD36 gene mutation frequency in blood donors in Chengdu,China

作　　者：李书平[1] 魏习薇 李娜 洪缨[1] 李执如[1] 巩天祥[1] 傅雪梅[1] LI Shuping;WEI Xiwei;LI Na;HONG Ying;LI Zhiru;GONG Tianxiang(Chengdu Blood Center,Chengdu 610041,China)

机构地区：[1]成都市血液中心

出　　处：《中国输血杂志》2019年第10期1034-1037,共4页Chinese Journal of Blood Transfusion

基　　金：成都市卫计委重大科技攻关项目(0915)

摘　　要：目的调查成都地区无偿献血者中CD36基因频率,为探索因CD36抗体导致的PTR提供基础。方法提取308例无偿献血者的血液DNA,采用PCR-SBT的方法对CD36基因的3-14外显子进行测序,计算CD36的突变频率。结果308例标本中有48例发生了不同类型的突变,10例携带已报道的CD36基因突变位点;突变频率较高的三个位点是329-330 del AC,410 T>C,1228-1239delATTGTGCCTATT突变频率都为0.32%。同时发现1657-1672delGCAC AAATAAAGCACT突变频率最高,突变频率为5.03%;其次为879T>C,突变频率0.97%。结论初步得出成都地区CD36基因突变频率。Objective To investigate frequency of CD36 gene mutation in blood donors in Chengdu and lay the foundation to analysis the PTR caused by CD36 antibody.Methods A total of 308 DNA samples were involved and 3-14 exons in CD36 gene were sequenced by polymerase chain reaction-sequence based typing(PCR-SBT),the genotype-phenotype relationship in CD36 was analyzed.Results 48 in 308 samples carried different mutations,including 10 with reported mutation,329-330 delAC,410 T>C,1228-1239 del ATTGTGCCTATT gave a higher frequencyof 0.32%.Meanwhile,the major mutation type was 1657-1672 delGCACAAATAAAGCACT(5.03%),and next was 879 T>C(0.97%)among the donors.Conclusion Preliminary realize of CD36 gene mutation frequency in blood donorsin Chengdu.

关 键 词：CD36 基因突变 无偿献血者 聚合酶链式反应-直接测序法 

分 类 号：R457.11[医药卫生—治疗学] R446[医药卫生—临床医学]