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Vox Sang. 1992;63(1):56-8.

Point mutation in the glycophorin C gene results in the expression of the blood group antigen Dha.

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  • 1International Blood Group Reference Laboratory, South Western Regional Transfusion Centre, Bristol, UK.

Abstract

The blood group Duch (Dha) antigen is located on glycophorin C (GPC). Total RNA prepared from the reticulocyte fraction of two Dh(a+) individuals were used in the synthesis of first-strand cDNA. The first-strand cDNA served as templates for the amplification of GPC-related DNA by polymerase chain reaction (PCR). The expected PCR product consisted of 412 base pairs. On sequencing the PCR-amplified DNA, a base change (cytosine----thymidine) at nucleotide 40 of the GPC cDNA was detected. Thus, the variant GPC (GPC.Dha) on Dh(a+) red cells has a substitution of leucine by phenylalanine at amino acid residue 14.

PMID:
1413665
[PubMed - indexed for MEDLINE]
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