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Review | 25-March-2020

The O2 allele: questioning the phenotypic definition of an ABO allele

There are three main alleles in the ABO blood group system, A, B, and O.  The former two alleles encode glycosyltransferases resulting in the wild-type A and B phenotypes, whereas the latter allele does not encode a functional enzyme owing to a frameshift polymorphism in the majority of cases.  Thus the group O phenotype is the absence of A or B sugars.  More than 15 years ago the O2 allele was described; this allele did not feature the usual crippling 261delG polymorphism, which

Mark H. Yazer, Martin L. Olsson

Immunohematology, Volume 24 , ISSUE 4, 138–147

Article | 31-March-2021

Transfusion support during childbirth for a woman with anti-U and the RHD*weak D type 4.0 allele

units; however, only 1 was D–. Table 1. Clinical laboratory results for mother and neonate Test Results (normal range) Maternal   Transfusion medicine†     ABO group B   RhD phenotype Serologic weak D phenotype: 2 + reaction strength‡   RhCE phenotype C–E–c+e+   Antibody screen Anti-U   DAT Negative   Red cell genotyping†       RHD allele RHD*weak D type 4.0     RHD zygosity Hemizygous Hematology†     Hemoglobin, g/dL       Antepartum 9.8 (10.0–15.0

Q. Yin, K. Srivastava, D.G. Brust, W.A. Flegel

Immunohematology, Volume 37 , ISSUE 1, 1–4

Report | 01-December-2019

A novel JK null allele associated with typing discrepancies among African Americans

. Results of donor genotyping were compared with previously recorded results of serologic tests, and discrepant results were investigated. Although the two previously identified polymorphisms were not detected in the discrepant samples, a novel allele (191G>A) was identified and was assigned the ISBT number JK*02N.09. This study illustrates a limitation of using single-nucleotide polymorphisms for prediction of blood group antigens.

Katrina L. Billingsley, Jeff B. Posadas, Joann M. Moulds, Lakshmi K. Gaur

Immunohematology, Volume 29 , ISSUE 4, 145–148

Report | 01-December-2019

RHCE variant allele: RHCE*ce254G,733G

A novel RHCE allele was identified in a 53-year-old AfricanAmerican female blood donor with an Rh phenotype of D+ C– E– c+ e+ and a negative antibody screen. The donor’s cells typed e+ with all antisera tested. By gel-based genotyping and cDNA analysis, the two RHCE alleles in this donor were characterized. One allele was found to be the known allele RHCE*01.20.01 (RHCE*ce733G) and the second was novel: RHCE*01.06.02 (RHCE*ce254G,733G).

Jessica A. Keller, Trina Horn, Colleen Chiappa, Camilla Melland, Christine Vietz, Lilian Castilho, Margaret A. Keller

Immunohematology, Volume 30 , ISSUE 3, 121–122

Report | 26-October-2019

First example of an FY*01 allele associated with weakened expression of Fya on red blood cells

Duffy antigens are important in immunohematology. The reference allele for the Duffy gene (FY) is FY*02, which encodes Fyb. An A>G single nucleotide polymorphism (SNP) at coding nucleotide (c.) 125 in exon 2 defines the FY*01 allele, which encodes the antithetical Fya. A C>T SNP at c.265 in the FY*02 allele is associated with weakening of Fyb expression on red blood cells (RBCs) (called FyX). Until recently, this latter change had not been described on a FY*01 background allele

Patricia A. Arndt, Trina Horn, Jessica A Keller, Rochelle Young, Suzanne M. Heri, Margaret A. Keller

Immunohematology, Volume 31 , ISSUE 3, 103–107

Article | 17-November-2020

Identification of the Tcb allele of the Cromer blood group gene by PCR and RFLP analysis

The Cromer blood group antigens reside on the complement regulatory protein, decay-accelerating factor (DAF). The Cromer system comprises 10 antigens, 3 of which are of low incidence. When an individual is homozygous for the allele encoding one of these low-incidence antigens, they are liable to produce an antibody to the anti-thetical high-frequency antigen if challenged by pregnancy or transfusion. These antibodies are often difficult to identify, because of the lack of readily available

Manisha Udani, Nicole Anderson, Neeraja Rao, Marilyn J. Telen

Immunohematology, Volume 11 , ISSUE 1, 1–4

Case report | 01-December-2019

An AQP1 allele associated with Co(a–b–) phenotype

The Colton (CO) blood group system consists of four antigens, Coa, Cob, Co3, and Co4, located on aquaporin-1 (AQP1), with Coa highly prevalent in all populations (99.8%). The Colton null phenotype, Co(a–b–), is very rare, and individuals with this phenotype lack the high-prevalence antigen Co3. To date, only six Co(a–b–) probands have been reported and four silencing alleles characterized. We identified an AQP1-null allele in a white woman with anti-Co3 caused by

Sunitha Vege, Sandra Nance, Donna Kavitsky, Xiaojin Li, Trina Horn, Geralyn Meny, Connie M. Westhoff

Immunohematology, Volume 29 , ISSUE 1, 1–4

Article | 01-April-2020

Serologic and molecular characterization of the B(A) blood group in the Chinese population

resolve blood donor typing problems caused by B(A) alleles,a serologic and molecular study of nine unrelated Chinese individuals and three families carrying B(A) alleles was conducted. Allele B(A)02 with a 700C>G mutation,allele B(A)04 with a single 640A>G substitution, and allele B(A)05 with a 641T>C mutation were detected in multigenerational families and unrelated blood donors. Neither the B(A)01 nor B(A)03 alleles with 703A>G substitutions were observed in this study. In addition, a

Zhong-Hui Guo, Dong Xiang, Zi-Yan Zhu, Xi Liu, He-Ping Chen, Jian-Lian Wang, Da-Zhuang Liu, Tong-Mao Zhao

Immunohematology, Volume 23 , ISSUE 2, 69–74

Case report | 09-October-2019

Two cases of the variant RHD*DAU5 allele associated with maternal alloanti-D  

(HDFN) as D alloimmunization can occur with some D variants. Here, we describe two cases of the RHD*DAU5 allele associated with maternal alloanti-D in patients of African ancestry. Two obstetric patients were initially serologically classified as D+ with negative antibody detection tests on routine prenatal testing. Repeat testing at delivery identified anti-D in both patients with no history of RhIG administration or transfusion. DNA sequencing revealed that both patients possessed the RHD*DAU5

Jennifer A. Duncan, Susan Nahirniak, Rodrigo Onell, Gwen Clarke

Immunohematology, Volume 33 , ISSUE 2, 60–63

Review | 09-October-2019

A Caucasian JK*A/JK*B woman with Jk(a+b–) red blood cells, anti-Jkb, and a novel JK*B allele c.1038delG

antisera. Nevertheless, in RBC genotyping (BioArray HEA BeadChip, Immucor, Warren, NJ) performed in our transfusion service on all patients with alloantibodies, her Kidd typing was JK*A/JK*B based on the Jka/Jkb single nucleotide polymorphism in exon 9 (c.838G>A, p.Asp280Asn). Genomic analysis and cDNA sequencing of her JK*B allele revealed a novel singlenucleotide deletion of c.1038G in exon 11, predicting a frameshift and premature stop (p.Thr346Thrfs*5) after translation of nearly 90 percent of

Glenn Ramsey, Ricardo D. Sumugod, Paul F. Lindholm, Jules G. Zinni, Jessica A. Keller, Trina Horn, Margaret A. Keller

Immunohematology, Volume 32 , ISSUE 3, 91–95

Article | 18-October-2020

Comparison of human platelet antigen (HPA)-1a typing by solid phase red cell adherence to HPA-1 allotypes determined by allelespecific restriction enzyme analysis

Phenotype results for human platelet antigen (HPA)-1 by CaptureP®‚ (Immucor, Inc., Norcross, GA) solid phase red cell adherence (SPRCA) were compared to results of allele-specific restriction enzyme analysis (ASRA) for the determination of HPA-1 allotype. Because the expression of HPA-1a and HPA-1b is determined by a single nucleotide substitution of thymine‘cytosine at position 196 of the gene encoding membrane glycoprotein (GP)-IIIa, it is possible to distinguish the alternate

Michael J. McGann, Jo L. Procter, Junichi Honda, Kazuhiko Matsuo, David F. Stroncek

Immunohematology, Volume 16 , ISSUE 2, 68–73

Report | 25-March-2020

Molecular analyses of GYPB in African Brazilians

hemagglutination were selected.  Allele-specific (AS)-PCR and PCR-restriction fragment length polymorphism (RFLP) were used to identify the variant forms of GYPB.  In 13 of 17 S–s– samples (76.5%), both GYPB were deleted.  In 137 of the 148 S–s+ samples (92.6%), the AS-PCR was consistent with the S–s+ phenotype.  In 4 of the S–s– samples (23.5%) and 11 of the S–s+ samples (7.4%), the AS-PCR showed the presence of a GYPB*S allele associated with

Ricardo Omoto, Marion E. Reid, Lilian Castilho

Immunohematology, Volume 24 , ISSUE 4, 148–153

Research paper | 31-July-2017

Analysis of methionine synthase (rs1805087) gene polymorphism in autism patients in Northern Iran

this study was to analyze the association of MTR A2756G gene polymorphism (rs1805087) and the risk of autism in a population in northern Iran. The prevalence of MTR A2756G polymorphism was determined in 108 children with autism and 130 controls in northern Iran. Genotypes and allele frequencies were determined in patients and controls by polymerase chain reaction‑restriction fragment length polymorphism (PCR‑RFLP). The prevalence of genotype frequencies of AA, AG and GG in autistic children were

Rosa Haghiri, Farhad Mashayekhi, Elham Bidabadi, Zivar Salehi

Acta Neurobiologiae Experimentalis, Volume 76 , ISSUE 4, 318–323

Article | 14-October-2020

Rapid genotyping of the major alleles at the Duffy (FY) blood group locus using real-time fluorescence polymerase chain reaction

, healthy, European individuals were phenotyped with commercial antisera. DNA was extracted from blood samples and the relevant sequences were amplified with the same cycling conditions, using real-time polymerase chain reaction. The melting point of the FY*A allele was 63ºC and of the FY*B allele, 55ºC. The allele without mutation at the promoter region had a melting point at 64ºC and the FY*B silent allele at 58ºC. The results in Caucasian individuals were similar to those found in

Fernando M. Araújo, Christina Pereira, Ana Aleixo, Isabel Henriques, Fátima Monteiro, Elsa Meireles, Pedro Lacerda, Luis M. Cunha-Ribeiro

Immunohematology, Volume 17 , ISSUE 2, 42–44

Review | 17-March-2020

The ABO blood group system revisited: a review and update

Jill R. Storry, Martin L. Olsson

Immunohematology, Volume 25 , ISSUE 2, 48–59

Article | 21-April-2020

Analysis of SERF in Thai blood donors

DAF. This study reports on PCR-RFLP analysis of the SERF allele with BstNI restriction endonuclease on more than one thousand Thai blood donor samples. One new donor homozygous (647T) and 21 donors heterozygous (647C/T) for the SERF allele were found. Among this cohort of random Thai blood donors,the SERF allele frequency was 1.1 percent. Thus, like other alleles in the Cromer blood group system, SERF is found in a certain ethnic group.

Poonsub Palacajornsuk, Kim Hue-Roye, Oytip Nathalang, Srisurang Tantimavanich, Sasitorn Bejrachandra, Marion Reid

Immunohematology, Volume 21 , ISSUE 2, 66–69

Article | 20-April-2020

ABO, Rh, MNS, Duffy, Kidd, Yt, Scianna, and Colton blood group systems in indigenous Chinese

The frequencies of selected alleles in the ABO, Rh, MNS, Duffy, Kidd, Yt, Scianna, and Colton blood group systems were determined among four indigenous Chinese ethnic populations:Han,Tajik, She, and Yugu. Genotypes were determined by PCR or PCR with sequence specific primers (PCR-SSP). In the Han population, the frequencies of A1, A2, B, and O1 alleles were 0.189, 0.003, 0.170, and 0.638, respectively, and the O2 allele was not identified. Among D+ Hans, the frequencies of C and c alleles were

Lixing Yan, Faming Zhu, Qihua Fu, Ji He

Immunohematology, Volume 21 , ISSUE 1, 10–14

Letter | 01-December-2019

Letter to the Readers - new blood group allele report

Immunohematology, Volume 29 , ISSUE 1, 34–34

Article | 17-February-2021

A resource-conserving serologic and high-throughput molecular approach to screen for blood donors with an IN:−5 phenotype

assay was devised to identify the frequency of the allele (IN*02.–05; p.150His) encoding the INRA– phenotype (IN:−5).10 Primers 5´-GCGGGCCTCTCTCCCAGCTATTGTTAACCA-3´ and 5´-ATTCTCCTTTCTGGACATAGCGGG-3´ were designed to genotype c.449G>A (p.Arg150His; rs771323886) single nucleotide variation (SNV) in exon 5 of the CD44 gene and applied to genomic DNA (gDNA). Controls included in each plate were heterozygous for c.449G>A from the children of the proband (INRA, IN:−5), homozygous for c.449G from a random

S.R. Joshi, S.B. Senjaliya, K. Srivastava, W.A. Flegel

Immunohematology, Volume 36 , ISSUE 4, 129–132

Article | 18-October-2020

Frequency of HLA-DQB*06 in Caucasian, African American, and Mexican American patients with a positive direct antiglobulin test

and rabbit polyspecific reagents. Of 275 patients tested, 73 (27%) had a positive DAT (12 Caucasians, 35 African Americans, and 26 Mexican Americans). We found that 5 (42%) Caucasian patients and 103 (50%) Caucasian controls possessed the DQB*06 allele (p = .56). In the African American group, 15 (43%) patients and 91 controls (44%) were DQB*06 positive (p = .92). Six Mexican American patients (23%) and 21 controls (20%) had the DQB*06 allele (p = .72). This article underscores the need to use

Joann M. Moulds, Laura A. Diekman, T. Denise Wells, John D. Reveille

Immunohematology, Volume 16 , ISSUE 2, 74–77

Article | 14-October-2020

Easy method for determining the frequency of O1 and O2 alleles in Brazilian blood donors by PCR-RFLP analysis

Ana C. Batissoco, Marcia C.Z. Novaretti, Valdecir J. Bueno, Pedro E. Dorlhiac-Llacer, Dalton A.F. Chamone

Immunohematology, Volume 17 , ISSUE 4, 111–116

research-article | 30-November-2019

Effects of HTR1A rs6295 polymorphism on emotional attentional blink

regulation of serotonin release which has attracted much attention in drug development has yet to be understood completely (Sniecikowska et al., 2019). One of the most common SNPs of the HTR1A that has been proposed as a candidate for the early detection of vulnerability to mood disorders is the functional C-1019G variant (rs6295) (Le Francois et al., 2008; Albert et al., 2019). More specifically, possessing the G allele or having G/G homozygosity has been considered a risk genotype as these variants

Kadi Tulver, Madis Bachmann, Mariliis Vaht, Jaanus Harro, Talis Bachmann

Acta Neurobiologiae Experimentalis, Volume 80 , ISSUE 4, 389–399

Article | 20-April-2020

FCGR3B polymorphism in three ethnic Chinese populations

by PCR using sequence specific primers (PCR-SSP). The results showed the gene frequencies were 0.55 for FCGR3B*1 and 0.45 for FCGR3B*2 in 177 Han individuals,0.69 for FCGR3B*1 and 0.31 for FCGR3B*2 in 87 She individuals,and 0.35 for FCGR3B*1 and 0.65 for FCGR3B*2 in 99 Tajik individuals,respectively. The FCGR3Bnull genotype was not found,but the FCGR3B*3 allele was identified in only three individuals in the Tajik population. DNA clone and sequencing confirmed that these individuals had the C

Lixing Yan, Faming Zhu, Lei Jin, Qinfeng Lv, Qihua Fu

Immunohematology, Volume 21 , ISSUE 1, 25–28

Article | 06-December-2020

A Polynesian family showing co-dominant inheritance of normal glycophorin C and the Gerbich variant form of glycophorin C

product of the Gerbich allele were inherited in an autosomal dominant manner.

Marion E. Reid, Joyce Poole, Yew W. Liew, Linda Pinder

Immunohematology, Volume 8 , ISSUE 2, 29–32

Case report | 12-March-2020

Alloimmunization to the D antigen by a patient with weak D type 21

Antibodies of apparent D specificity may be found in D+ patients. We report a D+, multi-transfused Caucasian woman with myelodysplasia who exhibited several alloantibodies. One antibody was a moderately strong (2+) anti-D that persisted for 9 months, until the woman died. Molecular analysis of the patient’s RHD gene identified the rare weak D type 21 (938C>T) allele. D alloantibodies do not occur in patients with most weak D types, but some patients with a weak D phenotype, including

Heather McGann, Robert E. Wenk

Immunohematology, Volume 26 , ISSUE 1, 27–29

Article | 15-February-2021

An update on the CD59 blood group system

maturation of CD59-deficient RBCs, in this child, all cell types were CD59-deficient. The cause was homozygosity for a CD59 null allele.3 Since the first publications in 19904 and 2013,5 a total of 14 children with CD59 deficiency have been reported (Table 1). Leading symptoms of CD59 deficiency are chronic inflammatory demyelinating neuropathy causing pareses and muscular weakness, ischemic or hemorrhagic lesions in the central nervous system, and hemolytic episodes. Several of these 14 patients had

C. Weinstock, M. Anliker, I. von Zabern

Immunohematology, Volume 35 , ISSUE 1, 7–8

Report | 12-March-2020

Application of real-time PCR and melting curve analysis in rapid Diego blood group genotyping

blood donor was found to be homozygous for DI*01 in this study. The calculated DI*01 and DI*02 allele frequencies were 0.0181 (95% CI, 0.0173–0.0189) and 0.9819 (95% CI, 0.9791–0.9847), respectively, showing a good fit for the Hardy-Weinberg equilibrium. There was full concordance among Diego phenotype results and Diego genotype results by PCR-SSP and real-time PCR. DI*01 and DI*02 allele determination with SYBR Green I and thermal cycler technology are useful methods for Diego

Marcia C. Zago Novaretti, Azulamara da Silva Ruiz, Pedro Enrique Dorlhiac-Llacer, Dalton Alencar Fisher Chamone

Immunohematology, Volume 26 , ISSUE 2, 66–70

Report | 25-March-2020

Principles of PCR-based assays

DNA-based assays are powerful tools to predict the blood group of an individual and are rapidly gaining in popularity.  DNA, which can be extracted from various sources using commercial kits, is amplified by PCR to obtain a sufficient amount of the target of interest for analysis.  There are different types of PCR assays: standard single PCR (followed by RFLP or sequencing), allele-specific PCR, multiplex PCR, and real-time PCR.  Microarray platforms are a newer application of

Kim Hue-Roye, Sunitha Vege

Immunohematology, Volume 24 , ISSUE 4, 170–175

Review | 20-March-2020

Detection and identification of platelet antibodies and antigens in the clinical laboratory

antibody tests. Fueled by development of PCR and determination of the molecular basis of the PlA1 human platelet antigen (HPA), serologic platelet typing has now been replaced by genotyping of DNA. Allele-specific PCR, melting curve analysis, and 5′-nuclease assays are now evolving into more high-throughput molecular tests. Laboratory testing for the diagnosis of immune platelet disorders has advanced considerably from its humble beginnings.

Brian R. Curtis, Janice G. McFarland

Immunohematology, Volume 25 , ISSUE 3, 125–135

Article | 17-February-2021

May the FORS be with you: a system sequel

Project.8 These data were used, and genetic variation at the GBGT1 locus was studied by Hult et al.9 The two most common alleles (GBGT1*01N.01, GBGT1*01N.02) constitute 89 percent of all alleles and, of the 66 remaining alleles reported in Erythrogene, there were six different alleles containing c.363C>A (rs35898523), of which GBGT1*02N (allele frequency 3.6%) was the most common. This single nucleotide polymorphism (SNP) gives rise to a severely truncated protein predicted to lack the whole

A.K. Hult, M.L. Olsson

Immunohematology, Volume 36 , ISSUE 1, 14–18

Article | 22-January-2021

The P1PK blood group system: revisited and resolved

is crucial for transcription of the gene.20 The P1/P2-discriminating single nucleotide polymorphism (SNP) nucleotide 42 (C/T) located in exon 2a, also called rs8138197,21 was further evaluated in 2014 by Lai et al.22 In their study, two new SNPs, rs2143918 (G/T) and rs5751348 (T/G), were identified with a 100 percent correlation (n = 338) to the P1/P2 phenotypes. Of the two SNPs, rs5751348G (P1 allele) was crucial for increased A4GALT transcript levels, which is consistent with what had been

L. Stenfelt, Å. Hellberg, J.S. Westman, M.L. Olsson

Immunohematology, Volume 36 , ISSUE 3, 99–103

Report | 26-October-2019

High-resolution melting analysis as an alternative method for human neutrophil antigen genotyping

Human neutrophil antigen (HNA)-typed granulocyte panels are widely used to screen for the presence of HNA antibodies and to determine antibody specificity. Many laboratories screen donors for HNA genotypes using low-throughput methods such as allele-specific polymerase chain reaction (PCR), PCR–restriction fragment–length polymorphism, and multiplex PCR. In the present study, we used a high-resolution melting (HRM) analysis to determine HNA genotypes. For the HRM analysis, purified

Kazuta Yasui, Mitsunobu Tanaka, Tomoya Hayashi, Nobuki Matsuyama, Ayumu Kuroishi, Rika. A. Furuta, Yoshihiko Tani, Fumiya Hirayama

Immunohematology, Volume 31 , ISSUE 1, 7–13

Review | 12-March-2020

The Duffy blood group system: a review

mutation upstream of the FY allele. This mutation prevents expression of Duffy glycoprotein on erythrocytes only, while permitting expression on nonerythroid cells. Other antigens include Fy3, Fy5, and Fy6. Antibodies to Duffy antigens are usually clinically signifi cant and have been reported to cause hemolytic disease of the fetus and newborn. This review provides a general overview of the Duffy blood group system, including the role of the Duffy glycoprotein as a chemokine receptor (Duffy antigen

Geralyn M. Meny

Immunohematology, Volume 26 , ISSUE 2, 51–56

Case report | 16-October-2019

A delayed and acute hemolytic transfusion reaction mediated by anti-c in a patient with variant RH alleles

Tiffany K. Walters, Thomas Lightfoot

Immunohematology, Volume 34 , ISSUE 3, 109–112

research-article | 30-November-2018

Active and inactive forms of biotin synthase occur in Heterodera glycines

fragments HgBioB-avr (avirulent; accession number MH251885) and HgBioB-vir (virulent; accession number MH251886) that code for HgBioB in inbred SCN strains TN10 (avirulent; Hg-type 0; grown on Roma tomato) and TN20 (virulent; Hg-type 1, 2, 3, 4, 5, 6, 7; grown on plant introduction 437654), respectively, were synthesized with codons optimized for E. coli expression (Life Technologies, Carlsbad, CA). Also, two different mutagenized forms of HgBioB-vir, HgBioB-vir-M1 (virulent, mutagenized allele 1

Khee Man Kwon, Sadia Bekal, Leslie L. Domier, Kris N. Lambert

Journal of Nematology, Volume 51 , 1–12

Review | 16-October-2019

An update on the GLOB blood group system (and former GLOB collection)

Blood Transfusion. A new allele with a missense mutation but resulting in normal expression of P has been assigned GLOB*02. Finally, the GLOB collection was made obsolete after the move of LKE antigen to the 901 series.

Jennifer Ricci Hagman, Julia S. Westman, Åsa Hellberg, Martin L. Olsson

Immunohematology, Volume 34 , ISSUE 4, 161–163

Report | 16-March-2020

The polymorphism nt 76 in exon 2 of SC is more frequent in Whites than in Blacks

presence of the expected nucleotides at position 76. The allele frequency in Caucasians was 0.75 for nt76C and 0.25 for nt76T. In African Americans, the frequencies were, respectively, 0.95 and 0.05.

Akiko Fuchisawa, Christine Lomas-Francis, Kim Hue-Roye, Marion E. Reid

Immunohematology, Volume 25 , ISSUE 1, 18–19

Article | 20-April-2020

Rh antigens and phenotype frequencies of the Ibibio, Efik, and Ibo ethnic nationalities in Calabar, Nigeria

,with a frequency of 73.61 percent. The alternative allele, C, did not appear in homozygous form (CC) in the population tested. This study further demonstrates the variability of Rh blood group phenotypes in Nigeria and Africa.

Z. Awortu Jeremiah, Chris Odumody

Immunohematology, Volume 21 , ISSUE 1, 21–24

Article | 01-April-2020

A single base insertion of the 4-α-galactosyltransferase gene led to the deficiency of Gb3 biosynthesis

of Gb3/CD77 antigen on the cell surface was evaluated by flow cytometry and by immunochemical techniques. All individuals with the p phenotype were found to have a single base insertion (A4GALT/insC) at the same nucleotide position. Neither the transfectant cells with a mutant gene (A4GALT/insC) of donor origin or those with a synthesized mutant gene (A4GALT/insC-Mu) expressed Gb3 antigen indicating that the presence of A4GALT/insC diminished the A4GALT enzyme activity. In addition, an allele

Mitsunobu Tanaka, Naoko Yamashita, Junko Takahashi, Fumiya Hirayama, Yoshihiko Tani, Hirotoshi Shibata

Immunohematology, Volume 22 , ISSUE 1, 23–29

Article | 09-November-2020

A modified PCR-RFLP genotyping method demonstrates the presence of the HPA-4b platelet alloantigen in a North American Indian population

reference panel of 10 known HPA-4 genotyped Japanese individuals. Thus, genotyping by PCR-RFLP can now be performed for all six major HPA systems. Using the HPA-4 PCR-RFLP genotyping method, we determined a frequency of 2.9 percent for the HPA-4b allele in a North American Indian population. This finding indicates the importance of the HPA-4 antigen system as a potential cause of alloimmune thrombocytopenia in American Indians.

Alexander P. Reiner, Gayle Teramura

Immunohematology, Volume 13 , ISSUE 2, 37–43

Article | 18-October-2020

Fyx is associated with two missense point mutations in its gene and can be detected by PCR–SSP

The Duffy blood group antigens are encoded by the Duffy gene with its three major alleles: Fy*A (Fya+), Fy*B (Fyb+), and a nonexpressed Fy*Fy (Fya–b–), which is most commonly found among black people. Additionally, a fourth allele, Fyx, is found among white people and defined as weak Fyb not detectable by all anti-Fyb. Three polymerase chain reactions (PCRs) using sequence-specific priming (SSP) for detection of the major FY alleles were developed. Eighteen Fy(a–b&ndash

Christoph Gassner, Richard L. Kraus, Tadeja Dovc, Susanne Kilga-Nogler, Irene Utz, Thomas Mueller, Friedrich Schunter, Diether Schoenitzer

Immunohematology, Volume 16 , ISSUE 2, 61–67

Article | 17-February-2021

Two Thai Burmese descendants with A4GALT*01N.21, p phenotype, and anti-PP1Pk

uncommon or rare blood types, especially the rare p phenotype. Here, we describe two Thai Burmese women with a history of spontaneous abortion who presented with the rare p phenotype and production of anti-PP1Pk. We identified the A4GALT*01N.21 allele in both individuals and developed a semi-nested polymerase chain reaction (PCR) assay to screen Thai blood donors. Case Report The first case was a 32-year-old female Thai Burmese patient (PX01) who had an unremarkable history of a normal first pregnancy

K. Intharanut, W. Sasikarn, W. Chusri, O. Nathalang

Immunohematology, Volume 36 , ISSUE 2, 64–68

Article | 26-October-2019

Blood group genotyping: the power and limitations of the Hemo ID Panel and MassARRAY platform

a set of genotyping assays that predict the phenotype for 101 antigens from 16 blood group systems. These assays involve three fundamental stages: multiplex target-specific polymerase chain reaction amplification, allele-specific single base primer extension, and MALDI-TOFMS analysis using the MassARRAY system. MALDI-TOF MS–based genotyping has many advantages over alternative methods including high throughput, high multiplex capability, flexibility and adaptability, and the high level of

Rhiannon S. McBean, Catherine A. Hyland, Robert L. Flower

Immunohematology, Volume 31 , ISSUE 2, 75–80

Article | 15-April-2020

Chimerism and mosaicism are important causes of ABO phenotype and genotype discrepancies

typing,which were inconsistent with their ABO genotype determined by allele-specific (AS) PCR. RBCs from propositus #1 demonstrated mixed field agglutination with both anti-A and -B, while RBCs from propositus #2 demonstrated mixed field only with anti-A reagents. Both had B/O genotypes byAS-PCR. Cloning and sequencing of ABO exons 6 and 7 revealed three alleles in both propositi: propositus #1: A102/B101/O04; propositus #2:A102/B101/O01. A panel of nine short-tandem repeat (STR) loci was tested on

Duck Cho, Jin Sol Lee, Mark Harris Yazer, Jong Won Song, Myung Geun Shin, Jong Hee Shin, Soon Pal Suh, Mee Jeong Jeon, Ji Young Kim, Jong Tae Park, Dong Wook Ryang

Immunohematology, Volume 22 , ISSUE 4, 183–187

Article | 28-April-2020

Incidence of weak D in blood donors typed as D positive by the Olympus PK 7200

+) at IS were further typed for weak D by the IAT. The weak D samples were RHD genotyped by allele-specific PCR. Of 1005 donors tested, 4 (0.4%) were classified as weak D by one or more anti-D reagents. Polyclonal anti-D reagent demonstrated weaker reactions when compared with the monoclonal blends. All weak D samples were found positive for exon 4, intron 4, and exon 10, a finding consistent with most D+ samples. The incidence of weak D found in this study is not significantly different from that

Candace Jenkins, Susan T. Johnson, Daniel B. Bellissimo, Jerome L. Gottschall

Immunohematology, Volume 21 , ISSUE 4, 152–154

Article | 17-February-2021

Weak D types 38 and 11: determination of frequencies in a Brazilian population and validation of an easy molecular assay for detection

the D protein.5 Approximately 0.2 to 1 percent of white individuals inherit an RHD allele that codes for a serologic weak D phenotype5,6 and, in this population, these variant alleles most frequently encode weak D types 1, 2, or 3, which can be managed safely as D+.5,7 It is important to highlight the fact that the distribution and diversity of RhD variants vary according to population, race, and geographical location. Most of what is known about RhD variants stems from studies focusing either on

M.R. Dezan, V.B. Oliveira, M. Conrado, F. Luz, A. Gallucci, T.G.M. Oliveira, E.C. Sabino, V. Rocha, A. Mendrone, C.L. Dinardo

Immunohematology, Volume 36 , ISSUE 2, 47–53

Review | 09-October-2019

DEL phenotype

are associated with the RHD*DEL1 or RHD*01EL.01 allele. The prevalence of DEL phenotypes has been reported among D– Han Chinese (30%), Japanese (28%), and Korean (17%) populations. The prevalence of DEL phenotypes is significantly lower among D– Caucasian populations (0.1%). Among the 3–5 percent of African individuals who are D–, there are no reports of the DEL phenotype. Case reports from East Asia indicate that transfusion of DEL RBCs to D– recipients has been

Dong Hyang Kwon, S. Gerald Sandler, Willy Albert Flegel

Immunohematology, Volume 33 , ISSUE 3, 125–132

Report | 16-October-2019

Mixed-field agglutination observed in column agglutination testing is not always associated with the A3 subgroup

antibody was performed, MFA was not observed in 9 of 11 samples with previously observed MFA from routine CAT, which were then interpreted as A2. From PCR-SBT performed in only exon 7 of the ABO gene, 7 of 13 sample results were consistent with ABO*A2 or ABO*AW alleles. Two samples suspected to be A2 or A3 had an ABO*AW allele. In two samples suspected to be Aweak, no mutation was detected in ABO exon 7, suggesting genetic variation elsewhere in the gene. Although other coding exons were not examined

Nampeung Anukul, Nipapan Leetrakool, Praijit Tanan, Poonsub Palacajornsuk, Phennapha Klangsinsirikul

Immunohematology, Volume 34 , ISSUE 2, 49–56

Report | 01-December-2019

SC*994C>T causes the Scnull phenotype in Pacific Islanders and successful transfusion of Sc3+ blood to a patient with anti-Sc3  

African American donors (n = 99) were tested using the Tsp45I PCR-RFLP assay; all gave a banding pattern that was consistent with the SC*994C/C consensus sequence. In all five samples, our analyses showed homozygosity for the nonsense nucleotide change SC*994C>T in an allele carrying the nucleotide associated with Sc1. Further investigation determined that one of the probands reported previously with the SC*994C>T change was from the Marshall Islands (which form part of the Micronesian Pacific

Marion E. Reid, Kim Hue-Roye, Randall W. Velliquette, Kathleen Larimore, Sue Moscarelli, Nicolas Ohswaldt, Christine Lomas-Francis

Immunohematology, Volume 29 , ISSUE 2, 69–72

Report | 01-December-2019

Molecular background of RH in Bastiaan, the RH:–31,–34 index case, and two novel  RHD alleles

available reagents. We tested a cohort of African Americans to estimate the frequency of the RHCE*ce 48C, 733G, 1006T allele, and in addition found two novel RHD alleles. Hemagglutination tests and DNA analyses were performed by standard methods. Analyses revealed homozygosity for RHCE*ce 48C, 733G, 1006T in Bastiaan. RBCs from Bastiaan were strongly agglutinated by three commercial anti-e reagents. Testing RBCs from people homozygous for RHCE*ce 48C, 733G, 1006T showed that anti-e MS16, MS17, and MS63

Marion E Reid, Christine Halter Hipsky, Randall W. Velliquette, Christine Lomas-Francis, Kathleen Larimore, Coral Olsen

Immunohematology, Volume 28 , ISSUE 3, 97–103

Report | 20-March-2020

A simple screening assay for the most common JK*0 alleles revealed compound heterozygosity in Jk(a–b–) probands from Guam

not routinely available. Identification of Jk(a–b–) patients and donors is most often performed serologically. However, ten JK*0 alleles have been identified, and this information can be used in DNA-based typing. We selected five JK*0 alleles that had been encountered by our reference laboratory in two or more samples from unrelated individuals and designed an allele-specific primer PCR assay for use as an initial screening tool. After in-house validation, we tested genomic DNA from a

Elisabet Sjöberg Wester, Julia Gustafsson, Beverly Snell, Peggy Spruell, Åsa Hellberg, Martin L. Olsson, Jill R. Storry

Immunohematology, Volume 25 , ISSUE 4, 165–169

Article | 14-October-2020

Studies on the Dombrock blood group system in non-human primates

samples from numerous non-human primates. Hemagglutination tests with six MoAbs to the Dombrock glycoprotein revealed distinct epitopes on RBCs from the non-human primates. The gorillas and orangutans had the same PCR-RFLP digestion pattern for the six SNPs studied as chimpanzees. Old world monkeys (macaques) were identical at nucleotides (nt) 323, 350, 624, and 793 with the chimpanzees, and at nt 898 the digestion pattern was the same as for the HY1 allele in humans. For the new world monkeys

Cristina Mogos, Alissa Schawalder, Gregory R. Halverson, Marion E. Reid

Immunohematology, Volume 19 , ISSUE 3, 77–82

Article | 16-February-2021

Comparison of ABO genotyping methods: a study of two low-resolution polymerase chain reaction assays in a clinical testing laboratory

glycolipids—producing A antigens and/or B antigens, respectively. The lack of activity of either of these enzymes results in the group O phenotype, and the activity of both glycosyltransferases results in the group AB phenotype. The ABO gene contains seven exons and spans over 20 kilobases (kb) on chromosome 9 (9q34). The reference allele is denoted as ABO*A1.01, which encodes A glycosyltransferase, which is responsible for the A antigen. The common group O phenotype is defined by a single nucleotide

J.A. Keller, T. Horn, S. Scholz, S. Koenig, M.A. Keller

Immunohematology, Volume 35 , ISSUE 4, 149–153

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