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探讨RhD阴性表型中个体D基因多态性研究

发布时间:2019-04-03 10:48
【摘要】:目的:探讨RhD阴性表型中个体D基因的多态性。方法:随机抽取2014年11月至2015年10月采集的135例无亲缘关系的RhD阴性血液样本作为研究对象。采用抗人球蛋白试验(又称Coombs试验)来检测RhD阴性表型个体,并运用序列特异引物引导的PCR反应(简称PCR-SSP方法)对RhD阴性表型中个体基因结构特点进行分析与统计。结果:135例经Coombs试验检测为阴性表型个体中,检测结果显示为外显子完全缺失有75例,占比55.56%(75/135),外显子部分缺失29例,占比21.48%(29/135),外显子完整31例,占比22.96%(31/135);采用PCR-SSP法进行基因分型,RHD基因完整中RhD(1227A)占比16.30%(22/135),弱D15型占比0.74%(1/135),RHD阳性占比5.19%(7/135);检测RHD基因部分缺失中RHD-CE(2-9)-D占比5.93%(8/135),DVa(Has)占比0.741%(1/135),DVIⅢ占比0.74%(1/135)。结论:我国RhD阴性人群的RhD基因基础结构呈现多态性特征,且不同地区的人群有着相同的Rh血型遗背景,今后可以尝试采用血清学与基因分型联合方法检测RhD阴性中的D抗原。
[Abstract]:Objective: to investigate the polymorphism of individual D gene in RhD negative phenotype. Methods: one hundred and thirty-five unrelated RhD-negative blood samples from November 2014 to October 2015 were randomly selected as subjects. Anti-human globulin test (Coombs test) was used to detect individuals with negative phenotypes of RhD, and PCR reaction guided by sequence-specific primers (PCR-SSP) was used to analyze and statistics the structural characteristics of individuals in RhD-negative phenotypes. Results: there were 75 cases with complete deletion of exons, accounting for 55.56% (75 / 135), 29 cases with partial deletion of exons (21.48%, 29 / 135), among the individuals with negative phenotype detected by Coombs test, 75 cases (55.56%) had complete deletion of exons, and 29 cases (21.48%) had partial deletions of exons. The exons were intact in 31 cases, accounting for 22.96% (31 / 135). PCR-SSP method was used for genotyping. RhD (1227A) accounted for 16.30% (22 / 135) of RHD gene integrity, and weak D15 (0.74%) was found to be positive (5.19% (7 / 135). The percentage of partial deletion of RHD gene was 5.93% (8 脳 135), DVa (Has), 0.741%) and DVI 鈪,

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