太原地区RhD初筛阴性献血人群RhD基因多态性的研究  

Rh D gene polymorphism in RhD-negative blood donors in Taiyuan region

作　　者：王菲[1] 张德梅[1] 田力 冯国强[1] 左江涛[1] 武云香[1] 王华[1] 

机构地区：[1]太原市红十字血液中心输血研究室,030024 [2]中国医学科学院北京协和医院输血研究所

出　　处：《中国药物与临床》2016年第7期959-961,I0002,共4页Chinese Remedies & Clinics

摘　　要：目的研究太原地区RhD初筛阴性献血者的RhD基因多态性。方法 207例盐水法初筛RhD阴性的标本,检测RhC、c、E、e抗原表型,并用间接抗球蛋白试验进行RhD确认。同时运用聚合酶链反应-限制性片段长度多态性（PCR-SSP）作基因检测分型,并对未确定型别标本进行基因测序。结果在206例初筛RhD阴性标本中,检测到1-10外显子全缺失142例,2-9外显子缺失25例,1-3外显子缺失1例,1227G〉A突变32例,676G〉C突变1例,845G〉A突变2例,RHD（710Del C）2例,weak D Type17（340C〉T）1例。结论太原地区RhD初筛阴性献血人群中RhD基因呈现丰富的多态性;常规血清学RhD确认试验漏检了部分Del型,提示可联合应用血清学和基因分型方法来检测RhD抗原。Objective To investigate the RhD gene polymorphism in RhD-negative blood donors in Taiyuan region. Methods A total of 206 blood samples which tested negative for RhD by saline screening method, were sub-jected to serotype testing of RhC, c, E, and e antigens. Indirect antiglobulin test was performed for RhD confirmation.PCR-SSP was used for genotyping. Samples with undetermined genotype underwent gene-sequencing. Results In 206 RhD-negative samples identified by saline screening method, there were 142 samples with whole deletion of exons 1to 10, 25 with deletion of exons 2 to 9, and one with deletion of exons 1 to 3. The mutation 1227G〉A was identified in 32 samples, 676G〉C in 1, 845G〉A in 2, RHD（710Del C） in 2, and weak D Type17（340C〉T） in 1 sample. Conclusion Diverse RhD gene polymorphism is present in Taiyuan blood donors who test RhD-negative by saline screening method. Conventional serological tests for RhD confirmation may miss partof Del genotype samples, suggest-ing the importance for combination of serology and genotyping in detecting RhD antigen.

关 键 词：多态现象 遗传 基因检测 RHD阴性 

分 类 号：R440[医药卫生—诊断学]