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Molecular basis for elliptocytosis associated with glycophorin C and D deficiency in the Leach phenotype.

Publication ,  Journal Article
Telen, MJ; Le Van Kim, C; Chung, A; Cartron, JP; Colin, Y
Published in: Blood
September 15, 1991

Glycophorin C (GPC) and glycophorin D (GPD) are highly glycosylated integral membrane proteins of human erythrocytes encoded by the same gene and associated with expression of Gerbich blood group system antigens. GPC/D deficiency (the Leach phenotype) is a rare condition usually found after identification of Gerbich blood group system antibodies in persons undergoing prenatal or pretransfusion evaluation. In all cases, the Leach phenotype has been associated with elliptocytosis. Characterization of the molecular basis of this phenotype in three previously uninvestigated families has shown that the most common genetic basis of GPC/D deficiency is deletion of exons 3 and 4 of the GPC gene. However, in one family, the Leach phenotype appeared due to a deletion of one nucleotide in exon 3, causing a frameshift mutation in the messenger RNA and premature generation of a stop codon. The GPC and GPD protein sequences are therefore interrupted in the extracellular domain and probably intracellularly degraded.

Duke Scholars

Published In

Blood

ISSN

0006-4971

Publication Date

September 15, 1991

Volume

78

Issue

6

Start / End Page

1603 / 1606

Location

United States

Related Subject Headings

  • RNA, Messenger
  • Phenotype
  • Mutation
  • Molecular Sequence Data
  • Immunology
  • Humans
  • Glycophorins
  • Exons
  • Elliptocytosis, Hereditary
  • Chromosome Deletion
 

Citation

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Telen, M. J., Le Van Kim, C., Chung, A., Cartron, J. P., & Colin, Y. (1991). Molecular basis for elliptocytosis associated with glycophorin C and D deficiency in the Leach phenotype. Blood, 78(6), 1603–1606.
Telen, M. J., C. Le Van Kim, A. Chung, J. P. Cartron, and Y. Colin. “Molecular basis for elliptocytosis associated with glycophorin C and D deficiency in the Leach phenotype.Blood 78, no. 6 (September 15, 1991): 1603–6.
Telen MJ, Le Van Kim C, Chung A, Cartron JP, Colin Y. Molecular basis for elliptocytosis associated with glycophorin C and D deficiency in the Leach phenotype. Blood. 1991 Sep 15;78(6):1603–6.
Telen, M. J., et al. “Molecular basis for elliptocytosis associated with glycophorin C and D deficiency in the Leach phenotype.Blood, vol. 78, no. 6, Sept. 1991, pp. 1603–06.
Telen MJ, Le Van Kim C, Chung A, Cartron JP, Colin Y. Molecular basis for elliptocytosis associated with glycophorin C and D deficiency in the Leach phenotype. Blood. 1991 Sep 15;78(6):1603–1606.

Published In

Blood

ISSN

0006-4971

Publication Date

September 15, 1991

Volume

78

Issue

6

Start / End Page

1603 / 1606

Location

United States

Related Subject Headings

  • RNA, Messenger
  • Phenotype
  • Mutation
  • Molecular Sequence Data
  • Immunology
  • Humans
  • Glycophorins
  • Exons
  • Elliptocytosis, Hereditary
  • Chromosome Deletion