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  • Title: [Molecular genetic analysis of two individuals with Bw subtypes of ABO variant].
    Author: Li GJ, Zhang X.
    Journal: Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2013 Dec; 30(6):733-5. PubMed ID: 24327158.
    Abstract:
    OBJECTIVE: To investigate the molecular characteristics of Bw subgroup of ABO variant. METHODS: Two individuals with Bw phenotypes were confirmed by standard serological assays. ABO genotype was analyzed with polymerase chain reaction-sequence specific primer (PCR-SSP) method. Exons 6-7 of B genes were amplified by specific PCR, and the PCR product was subjected to direct sequencing. RESULTS: The probands were identified as Bw phenotype by serological assays. As detected by PCR-SSP, the genotypes of the two probands were both B/O2. Compared with the wild-type B101, the B allele in one individual has harbored a missense mutation (C721T) in exon 7, which resulted in an amino acid substitutions (R241S). In the second individual, the B allele has harbored a missense mutation (C278T) in exon 6, which also resulted in an amino acid substitution (P93L). CONCLUSION: A Bw03 allele and a Bw12 allele were identified, which resulted in varied intensity of B antigen expression.
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