[278C > T variant of the alpha-1, 3-galactosyltransferase allele responsible for Bw subgroup].
OBJECTIVE
To investigate the molecular genetic basis of the Bw variant and identify novel alleles at ABO locus in Chinese Han population.


METHODS
Serological techniques were performed to characterize erythrocyte phenotype of a proband. Mutations of the ABO gene were screened by polymerase chain reaction, reverse transcription-polymerase chain reaction and DNA sequencing.


RESULTS
The proband was identified as Bw phenotype by serological technology and family study. A novel Bw variant allele was identified in the gDNA and cDNA. The novel allele was observed a missense mutation (278 C to T) at the exon 6 which resulted in an amino acid substitution (P93L) compared with B101 allele. The 278 C to T was the first report mutation position in exon 6 among Bw alleles, so the P93L amino acid substitution was different from others Bw variants which had amino acid substitutions in a conserved functional domain reported previously.


CONCLUSIONS
A novel Bw allele (278 C to T) responsible for Bw variant is reported in Chinese population.
Xu
Xian-guo
XG
Institute of Transfusion Medicine, Blood Center of Zhejiang Province, Key Laboratory of Blood Safety Research, Ministry of Health, Hangzhou, Zhejiang, 310006, P. R. China.
Hong
Xiao-zhen
XZ
Liu
Ying
Y
Wu
Jun-jie
JJ
Ma
Kai-rong
KR
Zhu
Fa-ming
FM
Yan
Li-xing
LX
D000017:ABO Blood-Group System / Q000235:genetics*; D000483:Alleles; D019943:Amino Acid Substitution; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D002681:China; D004252:DNA Mutational Analysis; D005091:Exons; D005700:Galactosyltransferases / Q000235:genetics*; D006801:Humans; D008297:Male; D020125:Mutation, Missense
D000017:ABO Blood-Group System; D005700:Galactosyltransferases; C047006:N-acetyllactosaminide alpha-1,3-galactosyltransferase