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RHD alleles in Brazilian blood donors with weak D or D-negative phenotypes

机译:D或D阴性表型较弱的巴西献血者中的RHD等位基因

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The RHD gene is highly polymorphic and the existence of a large number of alleles results in RhD variant phenotypes. RHD genotyping has been used to distinguish normal D antigen from D variants due to limitations of serologic methods. The purpose of this study was to determine the phenotypic frequency of RhD and RhCE antigens and to investigate the RHD alleles present in samples with the weak D or D- phenotypes from Brazilian blood donors. A total of 2007 donors were phenotyped for D, C, c, E and e antigens. Samples phenotyped as D- were genotyped by polymerase chain reaction-sequence specific primers, and exon 10 and intron 4 of the RHD gene were analysed. D- samples containing the RHD gene or samples considered weak D were further characterised using genotyping platform or nucleotide sequencing. Using serologic methods we found that 87·3% of the donors were D+, 11·9% D- and 0·8% weak D. The frequency of RHD gene in D- individuals was 9·2%. Five RHD alleles from phenotypically D- donors were characterised in six molecular backgrounds: RHDΨ, RHD-CE-D s, RHD-CE-(2-9)-D, RHD/RHDΨ, RHDΨ/RHD-CE-D s and RHD-CE(2)-D. The most common weak D antigens types found were 1, 3, 4·0/4·1 and 4·2, whereas the most prevalent weak D type was 4·2 (or DAR). The RHD genotyping proved to be a necessary tool to characterise RHD alleles in donors phenotyped as D- or weak D to increase the transfusion safety in highly racial mixed population.
机译:RHD基因高度多态,大量等位基因的存在导致RhD变异表型。由于血清学方法的限制,RHD基因分型已被用于区分正常的D抗原和D变异体。这项研究的目的是确定RhD和RhCE抗原的表型频率,并调查巴西献血者D或D表型较弱的样本中存在的RHD等位基因。共有2007个供体针对D,C,c,E和e抗原进行了表型分析。用聚合酶链反应-序列特异性引物对表型为D-的样品进行基因分型,并分析RHD基因的外显子10和内含子4。使用基因分型平台或核苷酸测序进一步表征包含RHD基因的D-样品或被认为是弱D的样品。使用血清学方法,我们发现87%〜3%的捐献者为D +,11%〜9%的D-和0·8%的弱D。DHD个体中RHD基因的频率为9·2%。在六个分子背景中表征了来自表型D-供体的五个RHD等位基因:RHDΨ,RHD-CE-D s,RHD-CE-(2-9)-D,RHD /RHDΨ,RHDΨ/ RHD-CE-Ds和RHD -CE(2)-D。发现的最常见的弱D抗原类型为1、3、4·0/4·1和4·2,而最普遍的弱D抗原类型为4·2(或DAR)。 RHD基因分型被证明是表征D型或弱D型供体中RHD等位基因特征的必要工具,以提高高度种族混合人群的输血安全性。

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