豫西地区汉族RhD(-)基因的遗传多态性研究  

Study on genetic polymorphisms of RhD genes among RhD negative individuals in the western Henan Han population

作　　者：王锐锋[1] 兰炯采[1] 马红丽[1] 牛琳琳 WANG Ruifeng;LAN Jiangcai;MA Hongli;NIU Linlin(Luoyang Blood Station ,Luoyang 471000,China)

机构地区：[1]洛阳市中心血站

出　　处：《中国输血杂志》2018年第4期409-412,共4页Chinese Journal of Blood Transfusion

摘　　要：目的观察豫西地区人群RhD（-）基因的遗传多态性,探讨本地区RhD（-）个体的RH基因构成。方法利用（SSP-PCR）方法检测豫西地区的无偿献血者中无血缘关系的40例RhD（＋）和129例RhD（-）个体的7个RHD特有的外显子（外显子第3,4,5,6,7,9和10）和RHD及RHCE第4内含子的构成状态。结果40例RHD（＋）献血者中均发现了RHD、RHCE内含子4以及RHD外显子第3,4,5,6,7,9和10;在129例RhD（-）献血者标本当中77例（59.69%）的个体既没有RHD内含子4,也没有上述7个RHD外显子,32例（24.81%）的献血者检查出有RHD内含子4和所有的RHD外显子,其余的20例（15.50%）RHD（-）献血者中携带至少1个RHD外显子;从129例RhD（-）标本中检出的20例Del型均能捡出上述7个外显子。结论豫西地区RHD（-）个体的RH基因结构具有多态性,主要表现为RHD基因全缺失、部分缺失和不缺失。Objective To explore the genetic polymorphism of RhD genes among RhD negative individuals in the western Henan Han population and discuss the RH genetic constitution in these individuals. Methods Sequence-specific primers-PCR（SSP-PCR） was performed on 40 RhD positive and 129 RhD negative unrelated blood donors,examining the 7 RHDcharacteristic exons（exons 3,4,5,6,7,9 and 10） and the 4 th intron of both RHD and RHCE. Results All the 40 RhD positive blood donors were all found with RHD-characteristic exons（exons 3,4,5,6,7,9 and 10） and RHD and RHCE intron 4; For the 129 RhD negative blood donors,on the other hand,77（59. 69%） of them possessed neither the RHD intron 4 nor the 7 RHD-characteristic exons; 32（24. 81%） of them possessed both the RHD intron 4 and the 7 RHD-characteristic exons; the remaining 20（15. 50%） donors carried at least 1 of the 7 RHD-characteristic exons. 20 Del phenotype were identified from in the 120 RhD negative samples,which all carried the 7 RHD-characteristic exons. Conclusion The RH gene structure of the RHD negative individuals in the western Henan region is polymorphic,which is characterized by the complete/partial deletion and absence of the RHD gene.

关 键 词：RHD(-) RHD外显子 遗传多态性 

分 类 号：R457.11[医药卫生—治疗学]