Literature DB >> 15663720

Association of ABO gene mutations resulting in a rare B subgroup.

N Sousa1, J M Anicchino-Bizzacchi, E M Leite, M F Locatelli, D Albuquerque, F F Costa, M L Barjas-Castro.   

Abstract

BACKGROUND AND OBJECTIVES: B subgroups are rare and the genetic analysis reported to date has been limited.
MATERIALS AND METHODS: Serological and molecular investigations were performed in blood from a B-subgroup donor.
RESULTS: Red cells did not react with anti-B and anti-AB reagents. However, cells absorbed anti-B. Red cells presented positive reactions with anti-H, and saliva secreted H substance. The molecular study demonstrated a B allele with the substitutions 467C>T, 646T>A, 681G>A, 771C>T, 796C>A, 803G>C, 829G>A and an O allele with the sequence of O02.
CONCLUSIONS: It is probable that the presence in exon 7 of some of the O02 substitutions could have weakened the enzymatic activity of the encoded B transferase.

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Year:  2005        PMID: 15663720     DOI: 10.1111/j.1423-0410.2005.00583.x

Source DB:  PubMed          Journal:  Vox Sang        ISSN: 0042-9007            Impact factor:   2.144


  2 in total

1.  A Novel Variant B Allele of the ABO Blood Group Gene Associated with Lack of B Antigen Expression.

Authors:  Peter Bugert; Erwin A Scharberg; Karin Janetzko; Gabriele Rink; Kathrin Panter; Ekkehard Richter; Harald Klüter
Journal:  Transfus Med Hemother       Date:  2008-07-17       Impact factor: 3.747

2.  Two novel mutations p. L319V and p. L91P in ABO glycosyltransferases lead to Ael and Bel phenotypes.

Authors:  Hang Lei; Zhongying Wang; Yuqing Wang; Dong Xiang; Xuefeng Wang; Xiaohong Cai
Journal:  Blood Transfus       Date:  2020-04-03       Impact factor: 3.443

  2 in total

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