Point Mutation in the Glycophorin C Gene Results in the Expression of the Blood Group Antigen Dha |
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| Authors: | M.J. King N.D. Avent G. Mallinson and M.E. Reid |
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| Affiliation: | International Blood Group Reference Laboratory, South Western Regional Transfusion Centre, Bristol, UK. |
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| 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. |
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