A Second Nonsecretor Allele of the Blood Group a(1,2)Fucosyltransferase Gene (FUT2)

Abstract

While screening Le(a+b+) Polynesian DNA samples for a candidate SeK allele, a point mutation (C(57I)→AT) resulting in a new stop codon (Arg(191)→stop) in the a(l,2)fucosyltransferase gene (FUT2) was identified. This point mutation resulted in the gaining of a new restriction enzyme cleavage site (Dde I), which allowed restriction enzyme cleavage screening of 40 selected Polynesians and 42 random Caucasians. The nonsecretor phenotype in two of the three nonsecretor Polynesians analyzed was due to homozygosity for the ‘new’ mutation, whereas the third Polynesian nonsecretor (with Caucasian ancestors) was due to homozygosity of the ‘old’ (Trp(143)→stop) mutation. The nonsecretor phenotype in all Caucasians analyzed was a consequence of homozygosity for the ‘old’ mutation. Both the new and the old nonsecretor mutations were identified in the heterozygous state in some secretor-positive Polynesians, while only the old mutation was found in the heterozygous state in Caucasians of the same phenotype.

Molecular characterization of secretor type α(1,2)-fucosyltransferase gene deficiency in the Philippine population

“…Results from this study are consistent with others reported in the literature [5,6,7,10,11,18]. Several hotspot mutations in the FUT2 gene are responsible for the nonsecretor phenotype.…”

“…Data from previous studies of Japanese and Polynesians suggest that Se enzyme-deficient alleles are race specific [7,11]. Our results suggest either that the Taiwanese Paiwan group may have migrated to or from the Philippines, or that these two populations have identical ancestors.…”

“…Recently, six mutations were reported to be responsible for the Lewis phenotypes Le(ac b-) or Le(ac bc) [6,7,11,18,19]. A mutation caused by substitution of G]A at nucleotide 428 of cDNA was responsible for Le(ac b-) in Caucasians [10].…”

Determination of LewisFUT3gene mutations by PCR using sequence-specific primers enables efficient genotyping of clinical samples

“…The PCR-SSP method also has the advantage to be relatively easy to adjust for the genotyping of novel mutations by just designing new primer-pairs. We have now included the FUT3 mutations 445C>A [Ørntoft et al, 1996;Grahn et al, 1999] and 760G>A [Grahn et al, 1999], and the FUT2 mutations 571C>T [Henry et al, 1996a] and 385A>T [Henry et al, 1996b] in our screening procedure. [Elmgren et al, 1996].…”

DNA sequence variation of the human ABO-secretor locus ( FUT2 ) in New Guinean populations: possible early human migration from Africa

“…The se 428 allele with the nonsense mutation G428A is a prevalent null allele in Africans, Iranians, and Europeans (Kelly et al 1995;Liu et al 1998;Koda et al 2001b), whereas the se 385 allele with the missense A385T substitution has to date been found in east and southeast Asian populations but not in African, Iranian, and European populations, suggesting that se 428 has disappeared in Asians and that Asians have produced a new null allele se 385 that has expanded to a frequency of about 0.5. Of other nonfunctional alleles, se 302 has been found in individuals of south Asia, and se 571 has been identified in Pacific islanders at a relatively high frequency (Henry et al 1996a(Henry et al , 1996b(Henry et al , 1996cChang et al 1999;Peng et al 1999;Pang et al 2000). The functional Se 40 allele has been found in African individuals at a high frequency and is absent in the other populations (Liu et al 1998).…”