Supported by the Etablissement Français du Sang (EFS)-Bretagne and the Institut National de la Santé et de la Recherche Médicale (INSERM), France.
Variant screening of the RHD gene in a large cohort of subjects with D phenotype ambiguity: report of 17 novel rare alleles
Article first published online: 26 SEP 2011
© 2011 American Association of Blood Banks
Volume 52, Issue 4, pages 759–764, April 2012
How to Cite
Fichou, Y., Le Maréchal, C., Bryckaert, L., Guerry, C., Bénech, C., Dupont, I., Jamet, D., Férec, C. and Chen, J.-M. (2012), Variant screening of the RHD gene in a large cohort of subjects with D phenotype ambiguity: report of 17 novel rare alleles. Transfusion, 52: 759–764. doi: 10.1111/j.1537-2995.2011.03350.x
- Issue published online: 10 APR 2012
- Article first published online: 26 SEP 2011
- Received for publication April 19, 2011; revision received August 1, 2011; and accepted August 1, 2011.
Vol. 52, Issue 8, 1842, Article first published online: 9 AUG 2012
BACKGROUND: A considerable number of RHD alleles responsible for weak and partial D phenotypes have been identified over the past decade. Two particular concerns, namely, 1) that red blood cells of these phenotypes may cause anti-D immunization when transfused to D– recipients and 2) that serologic determination of these phenotypes is often doubtful, make genetic analysis of the RHD gene highly desirable.
STUDY DESIGN AND METHODS: Blood samples that displayed D phenotype ambiguity (as determined by serologic analyses) were collected from several sites of the Etablissement Français du Sang and subjected to RHD variant screening by means of a previously established denaturing high-performance liquid chromatography method followed by direct sequencing.
RESULTS: Systematic screening of the RHD coding sequences as well as the exon-intron boundaries identified DNA variants in 755 of the 806 samples analyzed. In particular, this resulted in the identification of 10 novel single-nucleotide substitutions and seven novel complex alleles.
CONCLUSION: This study further increased the already large repertoire of RHD allelic variants. Whereas most of the newly found variants are putative weak or partial D alleles, most of the complex alleles are readily understandable in the present phylogenetic model of RHD.