RhD变异型分子生物学特征及其临床意义
|
摘要
目的探讨RhD变异型的分子生物学特征,为临床安全输血和预防新生儿溶血病提供依据。方法采用血清学方法检测无偿献血者个体RhD抗原,鉴定RhD变异型个体血清中抗体的性质;使用聚合酶链反应序列特异引物方法检测RhD变异者RHD基因,并观察其基因变化情况。结果 RhD变异型个体的基因分型结果为D3～D6外显子缺失,表现为RHD-CE(3-6)-D,即DⅥc型。结论 RhD变异型应通过分子生物学方法准确定型,避免临床错误输血及其引发的输血反应。
Objective To explore the molecular biological characteristics of RhD variant and provide further evidence for clinical safe blood transfusion and prevention of neonatal hemolytic disease. Methods The serum RhD antigen of donors was detected by serological method and the antibody characteristics of Rh D mutants were identified. The RHD blood group gene of the RhD variant individual was detected by polymerase chain reaction-sequence specific primer method and the gene composition of RhD antigen variant was observed. Results The genotype of the RhD variant individual was exon D3-D6 deletion,which was confirmed to be type D Ⅵc,showing RHD-CE( 3-6)-D. Conclusion RhD variant individuals should be accurately typed by molecular biology methods to avoid clinical incorrect transfusion and transfusion reactions.
Objective To explore the molecular biological characteristics of RhD variant and provide further evidence for clinical safe blood transfusion and prevention of neonatal hemolytic disease. Methods The serum RhD antigen of donors was detected by serological method and the antibody characteristics of Rh D mutants were identified. The RHD blood group gene of the RhD variant individual was detected by polymerase chain reaction-sequence specific primer method and the gene composition of RhD antigen variant was observed. Results The genotype of the RhD variant individual was exon D3-D6 deletion,which was confirmed to be type D Ⅵc,showing RHD-CE( 3-6)-D. Conclusion RhD variant individuals should be accurately typed by molecular biology methods to avoid clinical incorrect transfusion and transfusion reactions.
引文
[1] QUANTOCK K M,LOPEZ G H,HYLAND C A,et al. Anti-D in a mother,hemizygous for the variant RHD*DNB gene,associated with hemolytic disease of the fetus and newborn[J]. Transfusion,2017,57(8):1938-1943.
[2]涂同涛,魏晴,周金安. 52例RhD阴性患者D变异型和抗D抗体检测分析[J].华中科技大学学报,2008,37(1):139.
[3] WAGNER F F,FROHMAJER A,FLEGEL W A. RHD positive haplotypes in D negative Europeans[J]. BMC Genet,2001,2:10.
[4]肖建宇,曾荣,史广耀,等.多重PCR-SSP方法在RHD基因检测中的应用[J].中国输血杂志,2013,26(12):1202-1204.
[5]左宏莉,何智,罗广平,等. RhDⅥⅢ表型分子生物学研究及其临床意义[J].中国输血杂志,2008,21(3):174-176.
[6] AGRE P,CARTRON J P. Molecular biology of the Rh antigens[J]. Blood,1991,78(3):551-563.
[7] WAGNER F F,EICHER N I,JORGENSEN J R,et al. DNB:a partial D with anti-D frequent in Central Europe[J]. Blood,2002,100(6):2253-2256.
[8]王照军,李丹慧,曹红荣,等. RhD阴性献血者血清学表型分型及抗体筛选调查分析[J].国际检验医学杂志,2014,35(11):1487-1488.
[9] YE L,WANG P,GAO H,et al. Partial D phenotypes and genotypes in the Chinese population[J]. Transfusion,2012,52(2):241-246.
[10] GEOFF D. Human blood groups[M]. 3rd. New Jersey:WileyBlack well,2012:194-204.
[2]涂同涛,魏晴,周金安. 52例RhD阴性患者D变异型和抗D抗体检测分析[J].华中科技大学学报,2008,37(1):139.
[3] WAGNER F F,FROHMAJER A,FLEGEL W A. RHD positive haplotypes in D negative Europeans[J]. BMC Genet,2001,2:10.
[4]肖建宇,曾荣,史广耀,等.多重PCR-SSP方法在RHD基因检测中的应用[J].中国输血杂志,2013,26(12):1202-1204.
[5]左宏莉,何智,罗广平,等. RhDⅥⅢ表型分子生物学研究及其临床意义[J].中国输血杂志,2008,21(3):174-176.
[6] AGRE P,CARTRON J P. Molecular biology of the Rh antigens[J]. Blood,1991,78(3):551-563.
[7] WAGNER F F,EICHER N I,JORGENSEN J R,et al. DNB:a partial D with anti-D frequent in Central Europe[J]. Blood,2002,100(6):2253-2256.
[8]王照军,李丹慧,曹红荣,等. RhD阴性献血者血清学表型分型及抗体筛选调查分析[J].国际检验医学杂志,2014,35(11):1487-1488.
[9] YE L,WANG P,GAO H,et al. Partial D phenotypes and genotypes in the Chinese population[J]. Transfusion,2012,52(2):241-246.
[10] GEOFF D. Human blood groups[M]. 3rd. New Jersey:WileyBlack well,2012:194-204.