Department of Clinical Immunology, Aarhus University Hospital, Skejby, Aarhus, Denmark.
Transfusion. 2010 Jul;50(7):1460-4. doi: 10.1111/j.1537-2995.2010.02611.x. Epub 2010 Apr 23.
Many different partial and weak D types have been reported, and most of these are easily detected by serology. However, 17 Del types have also been described, with a very low expression of the D antigen, only detectable by absorption-elution techniques, and these may elicit the development of an anti-D. A genomic test of C/E+ and D- blood donors was initiated, to be able to categorize them correctly as D+ or -.
We analyzed all C/E+ and D- donors within our donor population of 22,000 donors with an initial test for RHD Exon 10. In case of a positive reaction, the genotype was further analyzed by sequence-specific polymerase chain reaction or nucleotide sequencing of the RHD gene.
Of 233 donors analyzed, seven were found positive for RHD Exon 10, and four of these were Del, corresponding to 1.7%. We report here a new mutation in the RHD gene. A correct assignment of all blood donors as D+ or D- is not possible using serotyping alone; genotyping offers the only exact categorization of all cases.
已经报道了许多不同的部分和弱 D 型,其中大多数很容易通过血清学检测到。然而,也已经描述了 17 种 Del 型,其 D 抗原表达非常低,只能通过吸收洗脱技术检测到,这些可能会引发抗-D 的产生。我们启动了对 C/E+和 D-献血者的基因组测试,以便能够正确地将他们归类为 D+或 D-。
我们分析了我们 22000 名献血者群体中的所有 C/E+和 D-献血者,最初对 RHD 外显子 10 进行了检测。如果反应阳性,进一步通过序列特异性聚合酶链反应或 RHD 基因的核苷酸测序分析基因型。
在分析的 233 名献血者中,有 7 名 RHD 外显子 10 呈阳性,其中 4 名为 Del,占 1.7%。我们在这里报告了 RHD 基因的一个新突变。仅通过血清学分型不可能对所有献血者进行正确的 D+或 D-分配;基因分型提供了所有病例的唯一准确分类。