PubMed Journals: Blood

  Source:		PMID: 1991173

    		Blood. 1991 Feb 1;77(3):644-8.
			Molecular characterization of erythrocyte
			glycophorin C variants.

			Chang S(1), Reid ME, Conboy J, Kan YW, Mohandas

			Author Information
			(1) Cell and Molecular Biology Division,
			Lawrence Berkeley Laboratory, University
			of California 94720.

			Human erythrocyte glycophorin C plays a
			functionally important role in maintaining
			erythrocyte shape and regulating membrane
			mechanical stability. Immunochemical and
			serologic studies have identified a number
			of glycophorin C variants that include the
			Yus, Gerbich, and Webb phenotypes. We report
			here the molecular characterization of these
			variants. Amplification of glycophorin C
			mRNA from the Yus phenotype, using two
			oligonucleotide primers that span the coding
			domain, generated a 338-bp fragment compared
			with a 395-bp fragment generated by amplification
			of normal glycophorin C mRNA. Sequencing
			of the mutant 338-bp fragment identified
			a 57-bp deletion that corresponds to exon
			2 of the glycophorin C gene. Similar analysis
			showed deletion of 84-bp exon 3 in the Gerbich
			phenotype. In contrast to the generation
			of shorter than normal DNA fragments from
			mRNA amplification in the Yus and Gerbich
			phenotypes, amplification of mRNA from the
			Webb phenotype generated a normal-sized
			fragment. Sequencing of this DNA fragment
			showed an A----G substitution at nucleotide
			23 of the coding sequence, resulting in
			the substitution of asparagine by serine.
			This modification accounts for the altered
			glycosylation of glycophorin C seen in this
			phenotype. These results have enabled us
			to characterize glycophorin C variants in
			three different phenotypes that involve
			deletions of exons 2 and 3 of the glycophorin
			C gene, as well as a point mutation in exon
			1 that results in altered glycosylation
			of this protein.

			PMID: 1991173 [Indexed for MEDLINE]

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