Amplification refractory mutation system-PCR is essential for the detection of chimaeras with a minor allele population: a case report

Won, Eun Jeong; Park, Hye Ryoen; Park, Tae Sung; Oh, Seung Hwan; Shin, Myung Geun; Shin, Jong Hee; Suh, Soon Pal; Ryang, Dong‐Wook; Park, Jong-Tae; Cho, Duck

doi:10.1136/jclinpath-2012-201355

Cited by 6 publications

(4 citation statements)

References 11 publications

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“…This explains why unlike NGS, Sanger sequencing failed to detect ABO * A1.02 in the twins. Allele-specific PCR selectively amplifying minor alleles in chimeric samples can be utilized to overcome the low sensitivity of Sanger sequencing [38, 39]; however, such procedures are time-consuming and laborious, thus limiting their use in clinical practice. In addition to molecular methods, FC analysis can be used for detecting and quantifying blood group chimerism [40].…”

Section: Discussionmentioning

confidence: 99%

Application of Blood Group Genotyping by Next-Generation Sequencing in Various Immunohaematology Cases

Kim

Phan

et al. 2021

Transfus Med Hemother

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Background: Next-generation sequencing (NGS) technology has been recently introduced into blood group genotyping; however, there are few studies using NGS-based blood group genotyping in real-world clinical settings. In this study, we applied NGS-based blood group genotyping into various immunohaematology cases encountered in routine clinical practice. Methods: This study included 4 immunohaematology cases: ABO subgroup, ABO chimerism, antibody to a high-frequency antigen (HFA), and anti-CD47 interference. We designed a hybridization capture-based NGS panel targeting 39 blood group-related genes and applied it to the 4 cases. Results: NGS analysis revealed a novel intronic variant (NM_020469.3:c.29-10T>G) in a patient with an Ael phenotype and detected a small fraction of ABO*A1.02 (approximately 3–6%) coexisting with the major genotype ABO*B.01/O.01.02 in dizygotic twins. In addition, NGS analysis found a homozygous stop-gain variant (NM_004827.3:c.376C>T, p.Gln126*; ABCG2*01N.01) in a patient with an antibody to an HFA; consequently, this patient’s phenotype was predicted as Jr(a−). Lastly, blood group phenotypes predicted by NGS were concordant with those determined by serology in 2 patients treated with anti-CD47 drugs. Conclusion: NGS-based blood group genotyping can be used for identifying ABO subgroup alleles, low levels of blood group chimerism, and antibodies to HFAs. Furthermore, it can be applied to extended blood group antigen matching for patients treated with anti-CD47 drugs.

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Section: Discussionmentioning

confidence: 99%

Application of Blood Group Genotyping by Next-Generation Sequencing in Various Immunohaematology Cases

Kim

Phan

et al. 2021

Transfus Med Hemother

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“…Several congenital blood chimaeras have been found when studying individuals with ABO subgroups. Several specimens with ABO discrepancies were suspected to contain ABO subgroups, but they were finally confirmed as chimaeras by various molecular approaches, such as ABO genotyping, short tandem repeat (STR) analysis, flow cytometry and amplification refractory mutation system (ARMS)–polymerase chain reaction (PCR) .…”

Section: Blood Chimaerism Is An Important Cause Of Abo Genotype and Pmentioning

confidence: 99%

“…Since MF agglutination can be seen in chimaerism and ABO subgroups such as B 3 and A 3 , several molecular approaches, such as ABO genotyping, STR analysis, have been used to discriminate between chimaerism and ABO subgroups. However, it was reported that some chimaeras with a minor allele population might be overlooked because of the preferential amplification of the major allele during PCR . Recently, two cases of blood chimaerism with a minor allele population, which could not be identified by direct sequencing of exons 6 and 7 of the ABO gene or the STR assay, were revealed using ARMS‐PCR or peptide nucleic acid (PNA)‐mediated PCR clamping .…”

Section: Blood Chimaerism Is An Important Cause Of Abo Genotype and Pmentioning

confidence: 99%

ABO subgroup studies in Korea

Cho

Lee

Ryang

2015

ISBT Science Series

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Numerous examples of A or B subgroup alleles have been described in many geographical and ethnic groups. To analyse the phenotypic and genotypic basis of some ABO subgroups in Korea, a large-scale study was performed on 169 605 samples from Korean blood donors. The overall incidence of ABO subgroups was 0Á13% (227/169,605) in this donor population. Based on genotyping and/or serologic typing, the subgroups identified were as follows: A 2 B (n = 120), A 2 B 3 (n = 36), A 1 B 3 (n = 22), A 2 (n = 13), B 3 (n = 13), A int B 3 (n = 6) and others (n = 17). Amongst these individuals with ABO subgroups, 26Á4% (60/227) demonstrated a cis-AB01 allele. It has been reported that the Korean population has several unique ABO subgroups (Aw10, Aw14 and B306) showing allelic competition or allelic enhancement. Several congenital blood chimaeras have been also found when studying individuals with ABO subgroups. Like ABO subgroups showing the allelic enhancement and allelic competition, chimaerism is also an important cause of ABO phenotype-genotype discrepancies when implementing DNA-based blood grouping techniques. To understand the pattern of A and B antigen expression amongst donors with subtype alleles, flow cytometric analysis of ABO antigen expression on HeLa cells transfected with plasmids containing various mutants was used, in addition to ABO genotyping. ABO subgroup frequencies in KoreaThe human ABO blood group is determined by the ABO gene located on chromosome 9. This gene contains seven exons, of which the two largest exons (6 and 7) comprise 77% of the coding sequence of the gene and encode 91% of the catalytic domain. The gene encoding a glycosyltransferase (GT) can transfer either N-acetylgalactosamine (GalNAc) to create an A antigen (glycosyltransferase A, GTA) or galactose (Gal) to create a B antigen (glycosyltransferase B, GTB) to the acceptor H substance [1-4]. Of the common ABO alleles, A alleles (A101 and A201 are common alleles in Caucasians, but not in Asians; A102 is a common allele in Asians), B allele (B101) and O alleles (O01, O02 and O03; O03 is rare in Asians) have been reported [5][6][7][8][9][10][11]. In addition to the common ABO blood types, weak subgroup phenotypes (A 2 , A 3 , A x , A el , B 3 , B x , B(A) and cis-AB) have been identified [7]. It is well known that the phenotypic frequencies and genetic basis of ABO subgroups differ between ethnic regions. To analyse the ABO subgroup frequencies in Korea, a large-scale study was performed on 169 605 samples from Korean blood donors. The overall incidence of ABO subgroups was 0Á13% (227/169,605) in this donor population. Based on genotyping and/or serologic typing, the subgroups identified were as follows: A 2 B (n = 120), A 2 B 3 (n = 36), A 1 B 3 (n = 22), A 2 (n = 13), B 3 (n = 13), A int B 3 (n = 6), A w B (n = 5), A 1 B x or el (n = 5), A int (n = 2), A m or el (n = 2), A el (n = 2) and B m or x (n = 1) [12]. Cis-AB blood group in KoreaAmongst 0Á13% (227/169 605) ABO subgroups in the large-scale study of Korea, 26Á4% (60/227) had a cis-AB ...

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“…Blood group chimerism may also cause confusion, if a blood transfusion is required or an ABO discrepancy occurs [1, 5, 6]. Thus, accurate diagnosis of twin blood chimerism is essential.…”

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confidence: 99%

The First Known Case of Blood Group Chimerism in Monochorionic Dizygotic Twins in Korea

et al. 2014

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Amplification refractory mutation system-PCR is essential for the detection of chimaeras with a minor allele population: a case report

Cited by 6 publications

References 11 publications

Application of Blood Group Genotyping by Next-Generation Sequencing in Various Immunohaematology Cases

Application of Blood Group Genotyping by Next-Generation Sequencing in Various Immunohaematology Cases

ABO subgroup studies in Korea

The First Known Case of Blood Group Chimerism in Monochorionic Dizygotic Twins in Korea

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