Molecular genetic analysis for the B<sub>x</sub> subgroup revealing two novel alleles in the ABO gene

Cai, Xiaohong; Jiang, Sha; Liu, Xi; Shen, Wei Feng; Lu, Qiongshi; Wang, Jian-Lian; Fan, Limin; Sun, Ji-Li; Liu, Dazhuang

doi:10.1111/j.1537-2995.2008.01878.x

Cited by 38 publications

(42 citation statements)

References 26 publications

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“…The ABO locus determines the A and B antigens, whereas α-(1,2)-fucosyl transferase (FUT) genes, FUT1 (H gene) and FUT2 (Se gene) determine the H antigen, the precursor of A and B antigens. 6 The two different α-(1-2)-fucosyl transferase enzymes encoded by two closely linked genes on chromosome 19q13.3. FUT1 specifically fucosylates type 2 chain oligosaccharides on red cell glycoproteins and glycolipids to form H antigen.…”

Section: Discussionmentioning

confidence: 99%

Para-Bombay phenotype - report of a rare blood group

Yashovardhan¹,

IS²,

KV³

et al. 2012

JCSR

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The blood sample of a 54-year-old male patient who presented with signs and symptoms suggestive of anaemia was submitted to the Blood Bank for blood grouping and cross-matching. In forward grouping, no agglutination was observed with A, B and AB antisera, but agglutination was noticed with D antiserum (Group O). In reverse grouping, there was agglutination in tube labelled A and no agglutination in tubes B and O (Group B) resulting in discrepancy between forward and reverse grouping. Further testing confirmed that the individual's blood group was Para-Bombay B (Para-BH), which is a rare entity. The Para-Bombay phenotype is very rare. Only a few cases of Para-Bombay were reported in India till now and none from Andhra Pradesh. This entity is characterized by the absence of H, A and B antigens on the red cells but their presence in saliva and secretions of gastrointestinal and genitourinary tracts. Proper identification of this phenotype is very important; otherwise this particular blood group may be mislabelled as group O.

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Section: Discussionmentioning

confidence: 99%

Para-Bombay phenotype - report of a rare blood group

Yashovardhan¹,

IS²,

KV³

et al. 2012

JCSR

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“…Genomic DNA was isolated from whole blood supplemented with EDTA using a commercial kit (Tiangen Biotech Co., Ltd). Seven exons of the ABO gene were amplified and sequenced according to a method reported previously . To identify the ABO gene haplotypes, we cloned and sequenced the polymerase chain reaction amplicon of Exon 7 containing the novel mutation in the proband, as previously described …”

Section: Brief Methodsmentioning

confidence: 99%

Identification of a novel B allele with multiple missense mutations in a Chinese family with a Bw phenotype

et al. 2018

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“…Gel card techniques (Bio‐Rad) were also used to verify mixed‐field hemagglutination on forward typing. Genomic DNA extracted from peripheral blood white blood cells was used for amplification and bidirectional sequencing of all exons of the ABO gene and their flanking regions …”

Section: Methodsmentioning

confidence: 99%

An exonic missense mutation c.28G>A is associated with weak B blood group by affecting RNA splicing of the ABO gene

Cai

Qian

et al. 2017

Transfusion

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BACKGROUND The amino acid substitutions caused by ABO gene mutations are usually predicted to impact glycosyltransferase's function or its biosynthesis. Here we report an ABO exonic missense mutation that affects B‐antigen expression by decreasing the mRNA level of the ABO gene rather than the amino acid change. STUDY DESIGN AND METHODS Serologic studies including plasma total GTB transfer capacity were performed. The exon sequences of the ABO gene were analyzed by Sanger sequencing. B310 cDNA with c.28G>A (p.G10R) mutation was expressed in HeLa cells and total GTB transfer capacity in cell supernatant was measured. Flow cytometry was performed on these HeLa cells after transfection, and agglutination of Hela‐Bweak cells was also examined. The mRNA of the ABO gene was analyzed by direct sequencing and real‐time reverse transcriptase–polymerase chain reaction. A minigene construct was prepared to evaluate the potential of splicing. RESULTS While plasma total GTB transfer capacity was undetectable in this B3‐like individual, the relative percentage of antigen‐expressing cells and mean fluorescence index of the Bweak red blood cells (RBCs) were 19 and 14% of normal B RBCs, respectively. There was no significant difference of total GTB transfer capacity in cell supernatant and B‐antigen expression on cell surfaces between HeLa cells transfected with B310 cDNA and B cDNA. The mRNA expression level of B310 in peripheral whole blood was significantly reduced. The amount of splicing is significantly lower in c.28G>A construct compared to that in wild‐type construct after transfection in K562 cells. CONCLUSION ABO c.28G>A mutation may cause B3‐like subgroup by affecting RNA splicing of the ABO gene.

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Molecular genetic analysis for the B_x subgroup revealing two novel alleles in the ABO gene

Abstract: Amino acid substitutions resulted from novel mutations 905A>G and 541T>C on ABO gene change highly conserved regions of the enzyme and may reduce the activity of the glycosyltransferases, leading to the B(x) phenotype.

Cited by 38 publications

References 26 publications

Para-Bombay phenotype - report of a rare blood group

Para-Bombay phenotype - report of a rare blood group

Identification of a novel B allele with multiple missense mutations in a Chinese family with a Bw phenotype

An exonic missense mutation c.28G>A is associated with weak B blood group by affecting RNA splicing of the ABO gene

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Molecular genetic analysis for the Bx subgroup revealing two novel alleles in the ABO gene

Abstract: Amino acid substitutions resulted from novel mutations 905A>G and 541T>C on ABO gene change highly conserved regions of the enzyme and may reduce the activity of the glycosyltransferases, leading to the B(x) phenotype.

Cited by 38 publications

References 26 publications

Para-Bombay phenotype - report of a rare blood group

Para-Bombay phenotype - report of a rare blood group

Identification of a novel B allele with multiple missense mutations in a Chinese family with a Bw phenotype

An exonic missense mutation c.28G>A is associated with weak B blood group by affecting RNA splicing of the ABO gene

Contact Info

Product

Resources

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Molecular genetic analysis for the B_x subgroup revealing two novel alleles in the ABO gene