<abstract xmlns="http://www.w3.org/1999/xhtml"><p>The Lutheran blood group system currently consists of 20 antigens that have been assigned ISBT numbers. Of these, all but LU7 have been associated with one or more nucleotide changes in <italic>LU.</italic>The purpose of this study was to determine the molecular basis associated with the LU:–7 phenotype. We obtained a stored sample from one proband with this phenotype and sequenced <italic>LU.</italic>Using genomic DNA, exons 1 through 15, and their flanking intronic regions, of <italic>LU</italic>were amplified by polymerase-chain reaction, and the products were sequenced. A homozygous novel missense nucleotide change of 1274A>C in exon 10 of <italic>LU</italic>was observed. This change is predicted to encode Ala at position 425 in place of Glu of the consensus Lu glycoprotein. Based on these results, and an absence of a record of this change in the Single Nucleotide Polymorphism database, Glu425 in the Lu glycoprotein is required for expression of Lu7, and Ala425 is associated with the LU:–7 phenotype. This completes the molecular basis associated with all antigens known to be in the Lutheran blood group system. <italic><bold>Immunohematology</bold></italic><bold>2012;28:130–1.</bold></p></abstract>

The Lutheran blood group system currently consists of 20 antigens that have been assigned ISBT numbers. Of these, all but LU7 have been associated with one or more nucleotide changes in LU.The purpose of this study was to determine the molecular basis associated with the LU:–7 phenotype. We obtained a stored sample from one proband with this phenotype and sequenced LU.Using genomic DNA, exons 1 through 15, and their flanking intronic regions, of LUwere amplified by polymerase-chain reaction, and the products were sequenced. A homozygous novel missense nucleotide change of 1274A>C in exon 10 of LUwas observed. This change is predicted to encode Ala at position 425 in place of Glu of the consensus Lu glycoprotein. Based on these results, and an absence of a record of this change in the Single Nucleotide Polymorphism database, Glu425 in the Lu glycoprotein is required for expression of Lu7, and Ala425 is associated with the LU:–7 phenotype. This completes the molecular basis associated with all antigens known to be in the Lutheran blood group system. Immunohematology2012;28:130–1.

The molecular basis of the LU:7 and LU:–7 phenotypes

Immunohematology

{"article-title":"The molecular basis of the LU:7 and LU:\u20137 phenotypes"}

The Lutheran blood group system currently consists of 20 antigens that have been assigned ISBT numbers. Of these, all but LU7 have been associated with one or...

The molecular basis of the LU:7 and LU:–7 phenotypes

Article Category: Review

Data publikacji: 01 gru 2019

Zakres stron: 130 - 131

DOI: https://doi.org/10.21307/immunohematology-2019-163

© 2012 K. Hue-Roye, et al., published by Sciendo