Premium
Identification of a New Plasma α(1,3)Fucosyltransferase (FUT6) Allele Requires an Extended Genotyping Strategy
Author(s) -
Larson Göran,
Börjeson Cecilia,
Elmgren Anders,
Kernholt Annika,
Henry Steve,
Fletcher Anne,
Aziz Auda,
Mollicone Rosella,
Oriol Rafael
Publication year - 1996
Publication title -
vox sanguinis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.68
H-Index - 83
eISSN - 1423-0410
pISSN - 0042-9007
DOI - 10.1046/j.1423-0410.1996.7140233.x
Subject(s) - genotyping , genetics , allele , genotype , biology , restriction enzyme , point mutation , mutation , population , allele frequency , microbiology and biotechnology , gene , medicine , environmental health
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 αI restriction pattern, but only one lacked plasma α(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 in Swedish and Indonesian families. Since G739A and C738T mutations are only one nucleotide apart and induce the same modification of Taq αI cleavage, a new screening strategy for FUT6 was adopted. The homozygous inactivating G739A mutation was for the first time identified in Caucasian and Polynesian individuals, both lacking plasma enzyme activity. The mutation C370T was present in 25 of the 40 Swedish individuals and the inactivating mutation C945A was not found at all. These findings stress the dangers of transferring restriction enzyme genotype strategies from one population to another and of inferring phenotypes from genotypes without phenotyping and/or performing confirmatory cloning and sequencing.