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《Chinese Journal of Blood Transfusion》 2019-01
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Correlation between mRNA splicing within the RHD gene framework and RhD antigen expression and it′s immune response in blood transfusion and pregnancy

LIANG Yanlian;ZHANG Yinze;Shenzhen Blood Center;Shenzhen University General Hospital;  
Objective To explore the abnormal immune response of RHD mRNA spliceosomal polymorphism and RHD antigen expression intensity in clinical blood transfusion and pregnancy, and to provide a theoretical basis for RHD blood typing standards and transfusion principles. Methods Case 1: one male patient with RhD-positive(serological agglutination intensity up to 4+) form D alloantibody due to multiple transfusion of RhD-positive blood complicated with other autoimmune diseases. Case 2: a pregnant women with serologic weak D phenotype early in her pregnancy developed anti-D during the pregnancy of a RhD-positive infant; Case 3: a Thalassemia children with Rhccdee phenotype developed anti-D after a long-term RhD-negative transfusion therapy(8 years). The whole blood mRNA extracted from the above 3 cases were reverse transcribed into cDNA, then amplified and sequenced by RT-PCR with self-designed primers and the polymorphic structure of RHD mRNA splice was analyzed.Results Among the above 3 patients, polymorphism of 3 spliced RHD mRNA gene were detected in patient 1 and patient 2.The RHD mRNA splices of patient 1 were as follows: splice 1 was consistent with the reference sequence of RHD gene; splice 2 displayed deficiency in exon 7, along with C A mutation at position 426 of exon 3, A G mutation at position 707 of exon 5, and T C mutation at position 713 of exon 5; splice 3 displayed complete deficiency in exon-7, 8 and 9. The RHD mRNA splices of patient 2 as follows: splice 1 was consistent with the reference sequence of RHD gene; splice 2 displayed deficiency in exon 8 and 9 with no nucleotide mutations; splice 3 displayed complete deficiency in exon 7, 8 and 9. No polymorphism of RHD mRNA splice was detected in patient 3 due to the complete deletion of all exons of RHD gene.Conclusion The expression of RhD antigen is regulated by RH gene directly, and the level of them depends on the polymorphism of RHD mRNA splices. Recipients with weak D or negative D are also at risk of forming D alloantibody after exposure to RhD-positive blood.
【Fund】: 深圳市卫计委立项项目(201506077)
【CateGory Index】: R457.11
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1 HUANG Mingshan;LV Piao;LIU Chixiang;LU Xuling;LI Hui;CAO Qiong;ZHOU Huayou;Department of Medical Technology,Fujian Health College;Nanfang Hospital,Southern Medical University;;Differences in genotypes and its frequent allele in China Han and Uyghur population[J];中国输血杂志;2015-12
【Secondary Citations】
Chinese Journal Full-text Database 2 Hits
1 YU Mingming;YAN Qingya;LU Xuling;LI Hui;LIU Sijing;LIU Chixiang;CHAO Yan;CHEN Rong;ZHANG Yinze;ZHOU Huayou;Guangdong Provincial Hospital of Chinese Medicine, the Second Affiliated Hospital of Guangzhou University of Chinese Medicine;Guangzhou Improve Medical Technology Co Ltd;Shenzhen Blood Center;Shaanxi Blood Center;;Detection of D_(el) type and Rh phenotype in Han,Uyghur and Tibetan Chinese populations[J];中国输血杂志;2014-12
2 WU Jun-Jie, HONG Xiao-Zhen, XU Xian-Guo, MA Kai-Rong, ZHU Fa-Ming, YAN Li-Xing Institute of Transfusion Medicine, Blood Center of Zhejiang Province; Key Laboratory of Blood Safety Research, Ministry of Health, Hangzhou 310006, China;RHD 1227A Allele Frequency among Rh Negative Population and Random Population[J];中国实验血液学杂志;2006-06
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