Identification of six new alleles at the FUT1 and FUT2 loci in ethnically diverse individuals with Bombay and Para-Bombay phenotypes.
BACKGROUND
The Bombay and para-Bombay phenotypes arise from mutations of the FUT1 gene that silence the gene or affect the efficiency of the encoded 2-alpha-fucosyltransferase. Samples from seven individuals of different geographic backgrounds whose red blood cells had an apparent Bombay or para-Bombay phenotype were investigated. Among these, novel FUT1 and FUT2 alleles were identified.


METHODS
Standard serologic techniques were used. Genomic DNA was sequenced with primers that amplified the coding sequence of FUT1 and the related secretor gene, FUT2. Routine ABO genotyping analysis was performed.


RESULTS
Five new FUT1 alleles were identified that silenced FUT1 or weakened alpha2FucT1 activity. These were 35C>T, 269G>T (Ala11Val, Gly89Val); 421A>G (Trp140Stop); 538C>T, 1089T>G (Gln180Stop, Ala363Ala); 689A>C (Gln230Pro); and 917C>T (Thr305Ile). In addition, both homozygosity and heterozygosity for the previously reported mutation, 826C>T (Gln276Stop), were observed. Four of seven samples were homozygous for the silencing mutation 428A in FUT2. One new FUT2 allele was identified: 278C>T, 357C>T (Ala93Val, Asn119Asn).


CONCLUSIONS
These results add to the growing database of apparently sporadic and random mutations in the FUT1 gene and confirm previous reports regarding the lack of ethnic bias. In contrast, our data reinforce the apparent maintenance of the common nonsecretor FUT2 alleles in the population.
Storry
Jill R
JR
Blood Center, Lund University Hospital & Department of Hematology and Transfusion Medicine, Lund University, Lund, Sweden. jill.storry@med.lu.se
Johannesson
Jannica S
JS
Poole
Joyce
J
Strindberg
Johanna
J
Rodrigues
Maria J
MJ
Yahalom
Vered
V
Levene
Cyril
C
Fujita
Claudia
C
Castilho
Lilian
L
Hustinx
Hein
H
Olsson
Martin L
ML
D000017:ABO Blood-Group System / Q000235:genetics*; D000483:Alleles; D002874:Chromosome Mapping; D005647:Fucosyltransferases / Q000235:genetics*; D006801:Humans; D009154:Mutation; D010641:Phenotype; D017422:Sequence Analysis, DNA; D000097631:Galactoside 2-alpha-L-fucosyltransferase
D000017:ABO Blood-Group System; D005647:Fucosyltransferases; D000097631:Galactoside 2-alpha-L-fucosyltransferase