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Molecular analysis of glycophorin C deficiency in human erythrocytes

R Winardi1, M Reid, J Conboy

  • 1Lawrence Berkeley Laboratory, University of California, Berkeley 94720.

Blood
|May 15, 1993
PubMed

Insights

The Leach blood group phenotype is linked to a deficiency in erythrocyte glycophorin C and D. This is caused by a deletion in the glycophorin C gene, affecting exons 3 and 4.

Area of Science:

  • Genetics
  • Hematology
  • Molecular Biology

Background:

  • Human erythrocyte glycophorin C is crucial for red blood cell shape and membrane stability.
  • The Leach phenotype is characterized by a deficiency of glycophorins C and D in erythrocytes.

Purpose of the Study:

  • To characterize the genetic basis of glycophorin C and D deficiency in the Leach phenotype.
  • To investigate the molecular mechanisms underlying the absence of these proteins in erythrocytes.

Main Methods:

  • Polymerase chain reaction (PCR) amplification of reticulocyte cDNA and genomic DNA.
  • Southern hybridization analysis.
  • Analysis of glycophorin C gene structure (4 exons) and mRNA expression.

Main Results:

  • PCR analysis revealed a missing or altered 3' end of the glycophorin C mRNA in Leach phenotype individuals.
  • Exon 4 of the glycophorin C gene was found to be absent in Leach genomic DNA.
  • A deletion or significant alteration of exons 3 and 4 of the glycophorin C gene causes the deficiency.
  • A stable, albeit truncated, mRNA transcript is produced by the mutant gene.

Conclusions:

  • The absence of glycophorin C and D in Leach phenotype erythrocytes results from a mutation in the glycophorin C gene affecting exons 3 and 4.
  • The mutant mRNA, though detectable, cannot produce functional membrane-bound glycophorin C due to the lack of transmembrane and cytoplasmic domains.

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