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

作者信息

King M J, Avent N D, Mallinson G, Reid M E

机构信息

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

出版信息

Vox Sang. 1992;63(1):56-8. doi: 10.1111/j.1423-0410.1992.tb01220.x.

DOI:10.1111/j.1423-0410.1992.tb01220.x
PMID:1413665
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.

摘要

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