[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.

CONCLUSION

A novel Bw allele (278 C to T) responsible for Bw variant is reported in Chinese population.