[C721T mutation of the alpha 1,3 galactosyltransferase gene responsible for Bw subgroup].
OBJECTIVE
To gain an insight into the molecular genetic basis of Bw subgroup of ABO blood group system.


METHODS
Three Bw phenotypes were confirmed by standard serological techniques. The enhancer, promoter and exons 1-7 including flanking introns of ABO gene were amplified and directly sequenced after PCR amplified fragments being purified by gel. Exons 6 and 7 were also sequenced after pcDNA3.1 (-) vector transformation. The sequence specific primer-polymerase chain reaction was performed to confirm the mutations detected by sequencing in this study.


RESULTS
Genotypes of three individuals were Bw/O by direct sequencing, there were G deletion heterozygous at position 261 and C/T heterozygous at position 721. A normal O allele was confirmed by cloning sequencing and 721 C>T mutation of the alpha 1, 3 galactosyltransferase (B allele) gene was also observed, which caused amino acid 241 Arg>Trp substitution. This mutation was not detected in 140 random samples by PCR-SSP.


CONCLUSIONS
The mutation of 721C>T in the alpha 1, 3 galactosyltransferase gene may be one of the molecular genetic bases of Bw phenotype.
Zhu
Faming
F
Blood Center of Zhejiang Province, Hangzhou, Zhejiang, 31000 P. R. China. zfm00@hotmail.com
Xu
Xianguo
X
Hong
Xiaozhen
X
Yan
Lixing
L
D000017:ABO Blood-Group System / Q000235:genetics*; D000483:Alleles; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D005700:Galactosyltransferases / Q000235:genetics*; D005838:Genotype; D006801:Humans; D007438:Introns; D008297:Male; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction
D000017:ABO Blood-Group System; D005700:Galactosyltransferases; C047006:N-acetyllactosaminide alpha-1,3-galactosyltransferase