The serological and genetic characterization of CisAB blood group in a Chinese family

Zhao, Hui; Miao, Tianhong; Fang, Yan; Liu, Yuanbo

doi:10.1016/j.transci.2015.04.001

Cited by 4 publications

(6 citation statements)

References 14 publications

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“…The CisAB phenotype is a relatively rare ABO blood group, and the frequency of occurrence is very low with 1:170,000–1:580,000 [3, 4]. The novel allele was not found in the 417 Chinese Han individuals in our laboratory.…”

Section: Discussionmentioning

confidence: 73%

“…Among them, c.526C>G, c.703G>A, c.796C>A, and c.803G>C can lead to four amino acid changes (p.Arg176Gly, p.Gly235Ser, p.Leu266Met, and p.Gly268Ala). The ABO alleles with nucleotide change at position 526, 703, 796, or 803 in the ABO * A1.01 or ABO * B.01 alleles were found to have both A and B glycosyltransferase activity and were labelled CisAB alleles [3, 4, 6, 7]. At present, six types of CisAB alleles responsible for the CisAB phenotype are recognized by the ISBT [7].…”

Section: Discussionmentioning

confidence: 99%

“…The ABO gene encodes specific glycosyltransferases to induce the formation of A or B blood antigens. The mutations in the ABO gene may lead to diminished amounts of A or B antigens in red blood cells giving rise to ABO subgroups [3][4][5]. The CisAB phenotype is a unique ABO subgroup [3,4,6].…”

Section: Introductionmentioning

confidence: 99%

“…The mutations in the ABO gene may lead to diminished amounts of A or B antigens in red blood cells giving rise to ABO subgroups [3][4][5]. The CisAB phenotype is a unique ABO subgroup [3,4,6]. Currently, only six CisAB alleles are recognized by the Red Cell Immunogenetics and Blood Group Terminology working party of the International Society of Blood Transfusion (ISBT) [7].…”

Section: Introductionmentioning

confidence: 99%

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A Novel c.796 A>C Mutation in the ABO*B.01 Allele Responsible for CisAB Phenotype

Sun

et al. 2019

Transfus Med Hemother

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Background: Individuals with the CisAB phenotype are rare in the Chinese population. In the present study, we investigated the sequence of the ABO gene and family members of a newborn suspected to have the CisAB phenotype. Methods: The ABO phenotype was detected using conventional serological tests. The full coding region of exons 1 to 7 of the ABO gene was amplified by polymerase chain reaction and was sequenced. The ABO haplotype was determined by the allele-specific primer sequencing method. Results: The proband and his father and grandfather were assigned the Cis-AB phenotype according to the results of the serological tests and family investigation. A novel CisAB allele was identified in the proband and his father and grandfather, which has only one nucleotide difference at position 796 from A to C (c.796A>C) compared with the ABO*B.01 allele. Conclusion: A novel CisAB (c.796A>C mutation in ABO*B.01) allele is the first identified in the Chinese population.

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Section: Discussionmentioning

confidence: 73%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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A Novel c.796 A>C Mutation in the ABO*B.01 Allele Responsible for CisAB Phenotype

Sun

et al. 2019

Transfus Med Hemother

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“…One was the unequal exchange of chromosomes, while the other was a point mutation in the coding gene [5−6] . More than ten years later, it was confirmed that there were 467 C>T and 803 G>T mutations in the CisAB blood group coding gene [7] . In 2003, Xu et al reported for the first time the molecular mechanism of CisAB in the Chinese population [8] .…”

Section: Discussionmentioning

confidence: 97%

Serological and genetic analysis of a rare CisAB01/O01 blood group

Liu¹,

Yi²,

Gao³

et al. 2021

Blood and Genomics

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The paper aims to analyze a rare blood sample in Ganzhou City Hospital with CisAB subtype and explore a feasible pattern for blood typing of rare blood type patients, so as to ensure clinical transfusion safety. The routine serological methods were used for ABO forward and reverse blood typing and the fluorescence real-time PCR technique was used for sample genotyping. A human ABO blood group 6-7 exon sequencing kit was used for sequence analysis. The nucleic acid sequence of the sample was compared with reference sequences. The forward typing results demonstrated that the sample was ABw, RhD positive. The sample exhibited 4+ agglutination with anti-H and anti-AB antibodies. Reverse typing by microcolumn gel method showed an AB result, but the serum sample demonstrated weak agglutination with B cell under room temperature, 4 °C and 37 °C in saline when tested with tube method respectively. The serological results matched with the A 2 B 3 serotype. The fluorescent realtime PCR genotyping results displayed A/O01. The sequence analysis demonstrated deletion of guanine in 261position 467C>T (heterozygote) and 803G>T (heterozygote) mutation respectively. The mutation caused the A glycosyltransferase peptide chain to change from proline to leucine (P156L) at 156 and from glutamate to alanine (G268A) at 268. The result demonstrated that the sample's genotype was CisAB01/O01. The mutation of glycosyltransferase coding gene leads to an abnormal serological reaction pattern. Only by combining the results of genetic analysis can we get the true sample blood type and better ensure the safety of clinical blood transfusion.

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Analysis of ABO subgroups which result in ABO discrepancies in Iranian blood donors

Jalali

Gudarzi

Amirizadeh

et al. 2023

Transfusion and Apheresis Science

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The serological and genetic characterization of CisAB blood group in a Chinese family

Cited by 4 publications

References 14 publications

A Novel c.796 A>C Mutation in the <b><i>ABO</i></b>*<b><i>B.01</i></b> Allele Responsible for CisAB Phenotype

A Novel c.796 A>C Mutation in the <b><i>ABO</i></b>*<b><i>B.01</i></b> Allele Responsible for CisAB Phenotype

Serological and genetic analysis of a rare <i>CisAB01</i>/<i>O01</i> blood group

Analysis of ABO subgroups which result in ABO discrepancies in Iranian blood donors

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The serological and genetic characterization of CisAB blood group in a Chinese family

Cited by 4 publications

References 14 publications

A Novel c.796 A&#x3e;C Mutation in the <b><i>ABO</i></b>*<b><i>B.01</i></b> Allele Responsible for CisAB Phenotype

A Novel c.796 A&#x3e;C Mutation in the <b><i>ABO</i></b>*<b><i>B.01</i></b> Allele Responsible for CisAB Phenotype

Serological and genetic analysis of a rare <i>CisAB01</i>/<i>O01</i> blood group

Analysis of ABO subgroups which result in ABO discrepancies in Iranian blood donors

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A Novel c.796 A>C Mutation in the <b><i>ABO</i></b>*<b><i>B.01</i></b> Allele Responsible for CisAB Phenotype

A Novel c.796 A>C Mutation in the <b><i>ABO</i></b>*<b><i>B.01</i></b> Allele Responsible for CisAB Phenotype