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The presence of an RHD pseudogene containing a 37 base pair duplication and a nonsense mutation in Africans with the Rh D-negative blood group phenotype.

Published byIda Lesmono Modified over 6 years ago

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Presentation on theme: "The presence of an RHD pseudogene containing a 37 base pair duplication and a nonsense mutation in Africans with the Rh D-negative blood group phenotype."— Presentation transcript:

1 The presence of an RHD pseudogene containing a 37 base pair duplication and a nonsense mutation in Africans with the Rh D-negative blood group phenotype by Belinda K. Singleton, Carole A. Green, Neil D. Avent, Peter G. Martin, Elizabeth Smart, Abigail Daka, Edwin G. Narter-Olaga, Linda M. Hawthorne, and Geoff Daniels Blood Volume 95(1):12-18 January 1, 2000 ©2000 by American Society of Hematology

2 Nucleotide and encoded amino acid sequence for the 3′ end of intron 3 and the 5′ end of exon 4 of RHDand RHDψ.The region of the 37 bp duplication is underlined (single and double). Nucleotide and encoded amino acid sequence for the 3′ end of intron 3 and the 5′ end of exon 4 of RHDand RHDψ.The region of the 37 bp duplication is underlined (single and double). The putative exon sequence derived from intron 3 is double-underlined.* Indicates a translation-termination codon. Belinda K. Singleton et al. Blood 2000;95:12-18 ©2000 by American Society of Hematology

3 Agarose gel showing results of PCR screening test for the 37 bp RHD exon 4 insert with samples from black South Africans. Agarose gel showing results of PCR screening test for the 37 bp RHD exon 4 insert with samples from black South Africans. Belinda K. Singleton et al. Blood 2000;95:12-18 ©2000 by American Society of Hematology

4 Polyacrylamide gel showing results with multiplex PCR method for predicting D and C/c phenotype and for detecting the presence of RHDψ. Polyacrylamide gel showing results with multiplex PCR method for predicting D and C/c phenotype and for detecting the presence of RHDψ. Belinda K. Singleton et al. Blood 2000;95:12-18 ©2000 by American Society of Hematology

5 Representation of the genomic organization of the D-positive haplotype and 3 D-negative haplotypes in Africans.□ indicates RHCE exon; ▪, RHD exon. Representation of the genomic organization of the D-positive haplotype and 3 D-negative haplotypes in Africans.□ indicates RHCE exon; ▪, RHD exon. Belinda K. Singleton et al. Blood 2000;95:12-18 ©2000 by American Society of Hematology

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