Heterogeneity of the HumanSecretorα(1,2)Fucosyltransferase Gene among Lewis(a+b−) Non-secretors
Resource
Biochemical and Biophysical Research Communications 222 (2): 390-394
Journal
Biochemical and Biophysical Research Communications
Journal Volume
222
Journal Issue
2
Pages
390-394
Date Issued
1996
Date
1996
Author(s)
Abstract
The human Secretor α(1,2)fucosyltransferase gene determines the ABH secretor status and influences the Lewis phenotype of an individual. Two different se alleles with point mutations, C571 to T and G849 to A respectively, in the coding region were identified in Le(a+b-) non-secretors from one of the Taiwanese indigenous groups. The base substitutions predict the alteration of Arg191 and Trp283 to stop codons respectively, resulting in deletion of the Secretor enzyme's C-terminal segment. Both alleles of the Secretor locus in all Le(a+b-) non-secretors, but not in Le(a-b+) secretors, were further demonstrated to be either one of these two se alleles with nonsense mutations. These results suggest two new molecular bases for the null se allele responsible for the formation of the non-secretor phenotype.
Other Subjects
fucosyltransferase; article; blood group ABO system; blood group Lewis system; carboxy terminal sequence; controlled study; DNA polymorphism; human; nucleic acid base substitution; phenotype; point mutation; priority journal; stop codon
Type
journal article
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