1996
DOI: 10.1046/j.1423-0410.1996.7140233.x
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Identification of a New Plasma α(1,3)Fucosyltransferase (FUT6) Allele Requires an Extended Genotyping Strategy

Abstract: Screening the FUT6 gene of 40 Swedish individuals, originally selected for genotyping of FUT3, revealed an unexpected high frequency of mutations. Four were originally typed as homozygous for the enzyme lethal mutation G739A by Taq alpha I restriction pattern, but only one lacked plasma alpha(1,3)fucosyltransferase activity. Cloning and sequencing of FUT6 from 2 of them revealed a new allele, without the G739A mutation, but with two new point mutations C738T and G977A. Segregation of this allele was confirmed … Show more

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Cited by 13 publications
(1 citation statement)
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“…Point mutations inactivating or disrupting Fuc-TIII (␣1,3/1,4-fucosyltransferase, Lewis enzyme) give rise to Lewis negative phenotypes (21)(22)(23)(24). Inactivating mutations have also been found in the FUT6 gene coding for the plasma ␣1,3-fucosyltransferase, Fuc-TVI (25)(26)(27)(28). However, there have been no reports on genetic polymorphism in the genes encoding for the ␣1,3-fucosyltransferases expressed in human leukocytes.…”
mentioning
confidence: 99%
“…Point mutations inactivating or disrupting Fuc-TIII (␣1,3/1,4-fucosyltransferase, Lewis enzyme) give rise to Lewis negative phenotypes (21)(22)(23)(24). Inactivating mutations have also been found in the FUT6 gene coding for the plasma ␣1,3-fucosyltransferase, Fuc-TVI (25)(26)(27)(28). However, there have been no reports on genetic polymorphism in the genes encoding for the ␣1,3-fucosyltransferases expressed in human leukocytes.…”
mentioning
confidence: 99%