46名血小板输注无效患者HPA基因分型及多态性研究  

Investigation of the genotypes and polymorphism of 46 PTR patients in Chongqing of China

作　　者：冯治伟 邓素容[1,2] 何翠[2] 张婷婷[2] 

机构地区：[1]重庆市血液中心永川分中心,重庆永川402160 [2]重庆医科大学附属永川医院

出　　处：《中国输血杂志》2014年第2期179-181,共3页Chinese Journal of Blood Transfusion

基　　金：重庆永川区科委软科学研究项目(2012BE5004)

摘　　要：目的探讨血小板输注无效(PTR)与HPA1-15基因系统的关系。方法应用全血基因组提取试剂盒提取46名PTR患者外周血标本中的DNA,用聚合酶链式反应特异性引物扩增目的等位基因并对扩增产物进行测序和比对。结果每个标本均检测到HPA-1a、-3a、-5a、-15a基因;HPA-1、-5以aa纯合子为多,aa基因型频率分别是0.9348、0.9565,没有bb纯合子出现。HPA-3、15出现bb纯合子的频率较高分别为0.1522、0.1304。结论人类血小板同种抗原血型系统基因多态性具有人群特征。较其他人群,重庆地区人群HPA血型系统中a基因频率明显高于b基因频率,HPA-1、-3、-5、-15系统具有多态性。Objective To study the relationship between HPAI - 15 and platelet transfusion refractoriness （PTR） ; to investigate HPA-1 ,-3 ,-5 ,-15 allele frequencies and their polymorphisms and their relationship with PTIL Methods To extract genomic DNA in peripheral blood from 46 PTR patients with whole blood extraction kit and sequenced and aligned the products after the amplification of HPA-I ,-3,-5 ,-15 alleles by polymerase chain reaction. Results HPA-la,3a,Sa and 15a alleles were found in each of the samples. HPA-1 ,-5 mainly showed aa homozygous,the frequencies of homozygous HPA-1 aa and -Saa were 0. 9348,0, 9565 respectively, and homozygous （bb） were not detected. HPA-3,15 appeared high homozygous （bb） and their frequencies were 0. 1522,0. 1304 respectively. Conclusion Polymorphism of HPA has differ- ential population characteristic. Compared with other populations, population in Chongqing displayed higher proportion of a alleles and also lower proportion of the b alleles. For Chongqing population,the HPA＇ systems HPA-1 ,-3,-5 and -15 present genetic polymorphisms. HPA-3 ,-15 have higher homozygosis than HPA-I ,-5, which suggests that they present higher im- mune-mediated platelet disorders.

关 键 词：血小板输注无效 人类血小板同种抗原 聚合酶链式反应 

分 类 号：R457.11[医药卫生—治疗学]