Correlation of a missense mutation in the human Secretor α1,2-fucosyltransferase gene with the Lewis(a+b+) phenotype: a potential molecular basis for the weak Secretor allele (Se w)

Abstract

A missense mutation (A385 to T), predicting an Ile129 to Phe substitution, in the human Secretor alpha 1,2-fucosyltransferase gene was present in double dose in Lewis(a+b+) individuals, but not in Lewis(a-b+) individuals. Co-segregation of the Lewis(a+b+) phenotype with homozygosity for the mutation was also verified. These results yield a potential molecular basis for the weak Secretor allele (Sew) accounting for the Lewis(a+b+) phenotype.

Polymorphism of the human ABO‐Secretor locus (FUT2) in four populations in Asia: indication of distinct Asian subpopulations

“…We found 16 single nucleotide polymorphisms (SNPs) (Fig. 1), of which 14 sites have been previously reported in different populations Yu et al 1995 ;Henry et al 1996 b, c ;Koda et al 1996 ;Liu et al 1998 ;Chang et al 1999 ;Pang et al 2000). The additional two sites with a base substitution, G539A (Arg180Gln) and synonymous C759A (Gly253Gly), were first identified in the present study.…”

“…The se%#) allele, which contains a nonsense mutation G428A and a further six base substitutions compared to the reference allele reported by Kelly et al (1995) (see Fig. 1), is predominant in Africans and Europeans Liu et al 1998) (Koda et al 1996) and some, but not all, individuals homozygous for the se$&( ,$)& showed the Le(ajbj) phenotype on red cells, Yu et al (1995) and (Henry et al 1996 b, c ;Chang et al 1999 ;Peng et al 1999 ;Pang et al 2000). The Se%!…”

Molecular analysis of mutations and polymorphisms of the Lewis secretor type α(1,2)-fucosyltransferase gene reveals that Taiwan aborigines are of Austronesian derivation

“…For example, the G428A mutation has been found only in Caucasians (Kelly et al 1995) and A385T is specific for Asians (Henry et al 1996;Yu et al 1995Yu et al , 1996Koda et al 1996;Kudo et al 1996). Thus, information about mutations or polymorphisms that occur in an ethnic population may be used to classify that population's origin.…”

A Newly Identified Nonsecretor Allele of the Human Histo–Blood Group α(1,2)Fucosyltransferase Gene (FUT2)

“…In addition to the above deletion, the se 685 allele also contains the silent mutation of C 357 to T and the two mutations in the 3′ untranslated region, G 1009 to A and C 1011 to T (fig. 1), which are commonly present in the Se alleles in Taiwan [8, 13]. Five of the eight clones analyzed were identified to be the se 571 allele and the remaining three demonstrated the three–nucleotide deletion and the three point mutations of the se 685 allele, suggesting that AM32 is a heterozygote with the se 571 /se 685 genotype.…”

“…The Le (a+b+) and Le (a+b–) phenotypes result from homozygosity for the weak Se allele ( Se w ) [6, 7, 8, 9, 10]and the null se allele in double dose, respectively.…”