Blood group genotyping by high‐throughput DNA analysis applied to 356 reagent red blood cell samples

Kappler-Gratias, Sandrine; Peyrard, Thierry; Beolet, Marylise; Amiranoff, Denise; Ménanteau, Cècile; Dubeaux, Isabelle; Rouger, Philippe; Cartron, Jean‐Pierre; Pennec, P.Y. Le; Pham, Bach-Nga

doi:10.1111/j.1537-2995.2010.02802.x

Cited by 28 publications

(21 citation statements)

References 34 publications

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“…In this study, the concordance rate between DNA‐based testing and serologic confirmation was 0.9997, similar to a 0.9995 concordance rate observed in a comparison of 356 reagent donor RBCs analyzed by hemagglutination and genotype using the same high‐throughput DNA platform used here . Fifty‐seven patients (11.5%) had at least one serologic discrepancy noted, compared to studies in multiply transfused patients with thalassemia and SCD that reported serologic and DNA‐predicted phenotype discrepancies in 36% to 51% of individuals .…”

Section: Discussionsupporting

confidence: 80%

Changing practice: red blood cell typing by molecular methods for patients with sickle cell disease

et al. 2015

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Section: Discussionsupporting

confidence: 80%

Changing practice: red blood cell typing by molecular methods for patients with sickle cell disease

et al. 2015

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“…This study revealed that genotyping using a microarray platform is a feasible blood group antigen genotyping tool that produces reliable data. The concordance rate with bidirectional sequencing was 100% and with serologic testing was 98·56%; these findings were in agreement with previous literature showing a 1% discrepancy rate, which could be attributed to the high rate of false‐positive results in serologic testing (Denomme & Oene, ; Kappler‐Gratias et al ., ; Bolye et al ., ).…”

Section: Discussionmentioning

confidence: 98%

Blood group antigen and phenotype prevalence in the Korean population compared to other ethnic populations and its association with RBC alloantibody frequency

Jekarl

Yoo

Lee

et al. 2019

Transfusion Medicine

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Objectives:This study aimed to analyse the allele frequency of blood group antigens in the Korean population and other ethnic populations and the association of blood group antigens with red blood cell (RBC) alloantibodies.Background: Blood group antigen genotyping can support patients undergoing frequent transfusions who have alloantibodies and antibodies against high-prevalence blood group antigens.Methods: Twenty-nine single nucleotide variations and 37 blood group antigens were tested. Samples requested for routine blood typing were collected from Jan to Apr 2016. Genotyping was performed on 145 Korean samples and was confirmed by bidirectional sequencing and serologic tests. The allele frequency data were compared with previous genotyping datasets (three datasets from Korea and one each from China, Europe, Asia, and the USA). Alloantibody frequencies and blood group antigens from the electronic medical record of 1772 cases were examined.Results: E antigen was higher in the Korean population compared to that of Asian and European populations. K, Kp a , Fy b and Do a allele frequencies were lower compared to other ethnic populations. RBC alloantibodies with frequencies (%) greater than 1% from the 1772 cases were as follows: anti-E, 36·7%, anti-C, 17·7%; anti-c 7·39%; anti-M, 5·9%; anti-e, 5·2%; anti-Jk a , 2·9%; and anti-Fy a , 1·1%. Blood group antigens and alloantibody frequencies revealed inverse trends that did not reach statistical significance. Conclusion:The allele frequency of blood group antigens assessed by high-throughput methods provided reliable and valuable information that could be used for maintaining donor pools and providing compatible blood for genotyped patients.

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“…The analysis of SMIM1 in Vel− subjects was conducted on historical blood samples that had been cryopreserved in the rare blood collection of the National Reference Center for Blood Groups (CNRGS, Paris, France) in order to establish the Vel− blood type of other subjects, and ultimately to identify the genetic basis of Vel− blood type. The analysis of SMIM1 in control Vel+ subjects was conducted on gDNA samples that had been extracted previously (Kappler‐Gratias et al, 2011). Fresh blood samples were obtained after informed consent.…”

Section: Methodsmentioning

confidence: 99%

“…Genomic DNA extraction from cryopreserved Vel− blood samples was performed with a QIAsymphony SP instrument and a QIAsymphony DNA Midi Kit (Qiagen) according to the manufacturer's instructions. Genomic DNA from control Vel+ regular blood donors had been extracted similarly (Kappler‐Gratias et al, 2011). DNA concentration was measured with a NanoDrop 2000c spectrophometer (Thermo Scientific).…”

Section: Methodsmentioning

confidence: 99%

Disruption of SMIM1 causes the Vel− blood type

et al. 2013

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Here, we report the biochemical and genetic basis of the Vel blood group antigen, which has been a vexing mystery for decades, especially as anti-Vel regularly causes severe haemolytic transfusion reactions. The protein carrying the Vel blood group antigen was biochemically purified from red blood cell membranes. Mass spectrometry-based de novo peptide sequencing identified this protein to be small integral membrane protein 1 (SMIM1), a previously uncharacterized single-pass membrane protein. Expression of SMIM1 cDNA in Vel− cultured cells generated anti-Vel cell surface reactivity, confirming that SMIM1 encoded the Vel blood group antigen. A cohort of 70 Vel− individuals was found to be uniformly homozygous for a 17 nucleotide deletion in the coding sequence of SMIM1. The genetic homogeneity of the Vel− blood type, likely having a common origin, facilitated the development of two highly specific DNA-based tests for rapid Vel genotyping, which can be easily integrated into blood group genotyping platforms. These results answer a 60-year-old riddle and provide tools of immediate assistance to all clinicians involved in the care of Vel− patients.

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Blood group genotyping by high‐throughput DNA analysis applied to 356 reagent red blood cell samples

Cited by 28 publications

References 34 publications

Changing practice: red blood cell typing by molecular methods for patients with sickle cell disease

Changing practice: red blood cell typing by molecular methods for patients with sickle cell disease

Blood group antigen and phenotype prevalence in the Korean population compared to other ethnic populations and its association with RBC alloantibody frequency

Disruption of SMIM1 causes the Vel− blood type

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