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DNA sequencing and screening for point mutations in the human Lewis (FUT3) gene enables molecular genotyping of the human Lewis blood group system.

Journal article
Authors A Elmgren
C Börjeson
Lola Svensson
Lennart Rydberg
Göran Larson
Published in Vox sanguinis
Volume 70
Issue 2
Pages 97-103
ISSN 0042-9007
Publication year 1996
Published at Institute of Laboratory Medicine, Dept of Clinical Chemistry/Transfusion Medicine
Pages 97-103
Language en
Keywords Alleles, Amino Acid Sequence, Base Sequence, Erythrocytes, metabolism, European Continental Ancestry Group, genetics, Genotype, Humans, Lewis Blood-Group System, genetics, Molecular Sequence Data, Nucleotide Mapping, Pedigree, Point Mutation, genetics, Polymerase Chain Reaction
Subject categories Clinical chemistry


The human Lewis gene encodes an alpha(1,3/1,4)-fucosyltransferase responsible for synthesis of the Le(a) and a Le(b) antigens. To define the molecular background for non-functional Lewis genes we have sequenced PCR-amplified DNA fragments from two Le(a-b-) individuals. One was homozygously mutated at nucleotides 202(T --> C) and 314 (C --> T), altering Trp68 to Arg and Thr105 to Met, and the other was homozygously mutated at nucleotides 59 (T --> G) and 1067 (T --> A), altering Leu20 to Arg and Ile356 to Lys. Using PCR we screened for these and additionally one other mutation at nucleotide 508 (G --> A) among 40 Caucasians. Of 15 Le(a-b-) individuals, 7 typed as le59/1067le202/314, 4 as le202/314le202/314 and 1 as le59/1067le59/1067. Of 21 Le(a-b+) and 4 Le(a+b-), 17 typed as LeLe and 7 as Lele202/314. A pedigree study of 8 Lewis-positive individuals showed that the mutations at nucleotides 202 and 314 were located on the same allele.

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