【摘要】：目的:探討RhD陰性表型中個體D基因的多態(tài)性。方法:隨機抽取2014年11月至2015年10月采集的135例無親緣關(guān)系的RhD陰性血液樣本作為研究對象。采用抗人球蛋白試驗(又稱Coombs試驗)來檢測RhD陰性表型個體,并運用序列特異引物引導(dǎo)的PCR反應(yīng)(簡稱PCR-SSP方法)對RhD陰性表型中個體基因結(jié)構(gòu)特點進(jìn)行分析與統(tǒng)計。結(jié)果:135例經(jīng)Coombs試驗檢測為陰性表型個體中,檢測結(jié)果顯示為外顯子完全缺失有75例,占比55.56%(75/135),外顯子部分缺失29例,占比21.48%(29/135),外顯子完整31例,占比22.96%(31/135);采用PCR-SSP法進(jìn)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陽性占比5.19%(7/135);檢測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)。結(jié)論:我國RhD陰性人群的RhD基因基礎(chǔ)結(jié)構(gòu)呈現(xiàn)多態(tài)性特征,且不同地區(qū)的人群有著相同的Rh血型遺背景,今后可以嘗試采用血清學(xué)與基因分型聯(lián)合方法檢測RhD陰性中的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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