Abstract
The humanSecretorα(1,2)fucosyltransferase gene determines the ABH secretor status and influences the Lewis phenotype of an individual. Two differentsealleles with point mutations, C571to T and G849to 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 Arg191and Trp283to stop codons respectively, resulting in deletion of the Secretor enzyme's C-terminal segment. Both alleles of theSecretorlocus in all Le(a+b−) non-secretors, but not in Le(a−b+) secretors, were further demonstrated to be either one of these twosealleles with nonsense mutations. These results suggest two new molecular bases for the nullseallele responsible for the formation of the non-secretor phenotype.
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