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

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

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]