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Molecular genetic mechanism analysis and pedigree investigation of rare Bweak subgroup

      Abstract

      Objective

      To analyze the molecular mechanism of rare Bweak subgroup in the ABO blood group system and conduct pedigree investigations.

      Methods

      The blood group was detected by conventional serological method, and ABO gene of proband and her family was amplified and sequenced by polymerase chain reaction method.

      Results

      The study showed that the proband was a Bweak phenotype by conventional serological method. Her family’s serological results were as follows, her father and eldest brother were Bweak subgroup while her mother and second eldest brother were O group. The proband’s ABO gene sequencing result was ABO*BW.27/ABO*O.01.02. Her father, mother and two elder brothers were ABO*BW.27/ABO*O.01.01, ABO*O.01.01/ABO*O.01.02, ABO*BW.27/ABO*O.01.02, ABO*O.01.01/ABO*O.01.02.

      Conclusion

      Conventional blood group serology combined with molecular diagnostic technology can accurately identify the Bweak subgroup, and the pedigree investigation analysis showed that the proband's allelic mutation came from her father. She has gained a point mutation of c.905A>G on the basis of ABO*B.01.

      Keywords

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      References

        • Li H.
        • Feng C.C.
        • Chen Q.
        The advances and application of ABO blood group genotyping technology.
        Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2022; 30: 622-626
        • Fung M.K.
        • Grossman B.J.
        • Hillyer C.D.
        • Westhoff Connie M.
        Technical manual. 18th ed. American Association of Blood Banks (AABB), Bethesda2019: 303
        • Cai X.
        • Qian C.
        • Wu W.
        • Lei H.
        • Ding Q.
        • Zou W.
        • et al.
        An exonic missense mutation c.28G>A is associated with weak B blood group by affecting RNA splicing of the ABO gene.
        Transfusion. 2017; 57: 2140-2149
        • Sun J.F.
        • Yang X.J.
        • Zhang A.
        • Cai P.W.
        • Chen F.W.
        Study on serological and molecular biological characteristics of 3 cases with B subtype.
        J Clin Transfus Lab Med. 2020; 22: 506-509
        • Daniels BSc, Geoff
        FRCPath. Human blood groups. 3rd ed. Blackwell Science Ltd, Oxford, UK2013https://doi.org/10.1002/9781118493595.ch2
        • Salmon C.
        Proposed practical classification of weak B phenotypes B3, Bx, Bel.
        Rev Fr Transfus Immunohematol. 1976; 19: 89-104
        • Chen Q.
        • Xiao J.
        • Wang S., L.J.
        • Du L.
        • Lu L.
        • et al.
        ABO sequence analysis in an AB type with anti-B patient.
        Chin Med J. 2014; : 971-972
        • Hong X.
        • Ying Y.
        • Zhang J.
        • Chen S.
        • Xu X.
        • He J.
        • et al.
        Six splice site variations, three of them novel, in the ABO gene occurring in nine individuals with ABO subtypes.
        J Transl Med. 2021; 19: 470
        • Huang H.
        • Jin S.
        • Liu X.
        • Wang Z.
        • Lu Q.
        • Fan L.
        • et al.
        Molecular genetic analysis of weak ABO subgroups in the Chinese population reveals ten novel ABO subgroup alleles.
        Blood Transfus. 2019; 17: 217-222
        • Hu J.
        • Nie Z.
        • Gong J.
        Molecular genetic analysis of a family trio with weak B phenotype.
        Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018; 35 (Chinese): 897-900
        • Patnaik S.K.
        • Helmberg W.
        • Blumenfeld O.O.
        BGMUT: NCBI dbRBC database of allelic variations of genes encoding antigens of blood group systems.
        Nucleic Acids Res. 2012; 40: D1023-D1029
        • Cai X.H.
        • Jin S.
        • Liu X.
        • Shen W.
        • Lu Q.
        • Wang J.L.
        • et al.
        Molecular genetic analysis for the B subgroup revealing two novel alleles in the ABO gene.
        Transfusion. 2008; 48: 2442-2447
        • Zeng J.Q.
        Identify a novel B subgroup allele of al, 3 galactosyltransferase.
        Int J Blood Tranfusion Hematol. 2009; 5 (Chinese): 403-406
        • Han B.
        • Liu P.
        • Liu X.
        • Feng Z.
        Serological and molecular study of three cases with a rare Bx02 blood group.
        Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017; 34 (Chinese): 65-67
        • Cai X.
        • Jin S.
        • Liu X.
        • Fan L.
        • Lu Q.
        • Wang J.
        • et al.
        Molecular genetic analysis of ABO blood group variations reveals 29 novel ABO subgroup alleles.
        Transfusion. 2013; 53: 2910-2916
        • Yao M.X.
        • Hao X.
        • Xia X.X.
        • Lai C.
        • Diao X.Q.
        Retrospective analysis of molecular biology mechanism of ABO blood group typing discrepancy among blood donors in Jinan blood station.
        Transfus Clin Biol. 2022; 29: 75-78