title: Point mutation in the glycophorin C gene results in the expression of the blood group antigen Dha.
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.
authors.affiliation: International Blood Group Reference Laboratory, South Western Regional Transfusion Centre, Bristol, UK.
authors.forename: M J
authors.initials: MJ
authors.lastname: King
authors.forename: N D
authors.initials: ND
authors.lastname: Avent
authors.forename: G
authors.initials: G
authors.lastname: Mallinson
authors.forename: M E
authors.initials: ME
authors.lastname: Reid
mesh_terms: D001483:Base Sequence; D001789:Blood Group Antigens / Q000235:genetics*; D005786:Gene Expression Regulation; D006021:Glycophorins / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D016297:Mutagenesis, Site-Directed
chemical_list: D001789:Blood Group Antigens; D006021:Glycophorins