| Autor: |
Christa Hackl, Norbert Niklas, Helene Polin, Waltraud Gaszner, Martin Danzer, Christian Gabriel |
| Rok vydání: |
2012 |
| Předmět: |
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| Zdroj: |
Vox Sanguinis. 103:130-136 |
| ISSN: |
0042-9007 |
| DOI: |
10.1111/j.1423-0410.2012.01586.x |
| Popis: |
Background and Objectives The application of a commercial available microcolumn system for ABO/RH determination lead to irregular results in CDE typing of seemingly D- blood samples. In this study, we introduce a comprehensive serological and molecular work-up of a novel haplotype carrying the RHD*weak 4.3 in combination with an aberrant RHCE*ce. Materials and Methods The molecular background was characterized by RHD and RHCE-specific DNA sequencing, RHD cDNA sequencing and RHD zygosity testing. Haplotype-specific extraction and inheritance analysis were initiated to determine the linkage of the polymorphisms. The genetic admixture was studied by whole genome SNP array analysis. Serology was done using commercial available standard techniques and by in-house sera likewise. Results All samples (n = 29) were shown to harbour an altered RHD(T201R, F223V, P291R) allele known as RHD*weak 4.3 associated with a RHCE*ce(W16C, A36T, L245V) gene formation, expressing CX and VS. Both anti-CX and anti-V/VS were detected as contaminating antibodies in a commercial available microcolumn system for ABO/RH determination accounting for the positive results in CDE typing. Compared with other population data, the samples were clearly identified as Caucasian. Conclusion The RHD*weak 4.3 allele with markedly reduced antigen D expression was shown to be associated with an altered RHCE gene formation leading to the expression of CX and VS. Its frequency was estimated 1 in 854 among apparently D- Upper Austrian blood donors. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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