Identification of six new RHCE variant alleles in individuals of diverse racial origin

Mindy Goldman, Arantxa Cemborain, Jacqueline Cote, Rachid El Hamss, Robert L. Flower, Adirane Garaizar, Felix Garcia-Sanchez, Catherine A. Hyland, Monica Kalvelage, Donatella Londero, Genghis H. Lopez, Nicoletta Revelli, Pablo Rodriguez-Wilhelmi, Maria Antonietta Villa, Gorka Ochoa-Garay

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

BACKGROUND The introduction of molecular methods into routine blood typing is prompting the identification of new blood group alleles. Discrepancies between the results of genotyping and serology or chance events uncovered during genotyping prompted additional investigations, which revealed six new RHCE variant alleles. STUDY DESIGN AND METHODS Samples from eight blood donors, two patients (one prenatal), and a patient's relative, all of diverse racial origin, were analyzed by standard serology methods, targeted genotyping arrays, DNA sequencing, and allele-specific polymerase chain reaction. RESULTS Six new RHCE alleles were identified, namely, RHCE cE84A, RHCE ce202G, RHCEce307T, RHCE Ce377G, RHCEce697G,712G,733G,744C, and RHCECe733G. CONCLUSION While implementation of new assays in commercial genotyping platforms to detect the polymorphisms reported here may not be justified given their apparent rarity, software interpretative algorithms may benefit from the identification of new alleles for a more accurate determination of genotypes and prediction of phenotypes.

Original languageEnglish
Pages (from-to)244-248
Number of pages5
JournalTransfusion
Volume56
Issue number1
DOIs
Publication statusPublished - Jan 1 2016

Fingerprint

Alleles
Serology
Blood Grouping and Crossmatching
Blood Group Antigens
Blood Donors
DNA Sequence Analysis
Software
Genotype
Phenotype
Polymerase Chain Reaction

ASJC Scopus subject areas

  • Hematology
  • Immunology
  • Immunology and Allergy

Cite this

Goldman, M., Cemborain, A., Cote, J., El Hamss, R., Flower, R. L., Garaizar, A., ... Ochoa-Garay, G. (2016). Identification of six new RHCE variant alleles in individuals of diverse racial origin. Transfusion, 56(1), 244-248. https://doi.org/10.1111/trf.13357

Identification of six new RHCE variant alleles in individuals of diverse racial origin. / Goldman, Mindy; Cemborain, Arantxa; Cote, Jacqueline; El Hamss, Rachid; Flower, Robert L.; Garaizar, Adirane; Garcia-Sanchez, Felix; Hyland, Catherine A.; Kalvelage, Monica; Londero, Donatella; Lopez, Genghis H.; Revelli, Nicoletta; Rodriguez-Wilhelmi, Pablo; Villa, Maria Antonietta; Ochoa-Garay, Gorka.

In: Transfusion, Vol. 56, No. 1, 01.01.2016, p. 244-248.

Research output: Contribution to journalArticle

Goldman, M, Cemborain, A, Cote, J, El Hamss, R, Flower, RL, Garaizar, A, Garcia-Sanchez, F, Hyland, CA, Kalvelage, M, Londero, D, Lopez, GH, Revelli, N, Rodriguez-Wilhelmi, P, Villa, MA & Ochoa-Garay, G 2016, 'Identification of six new RHCE variant alleles in individuals of diverse racial origin', Transfusion, vol. 56, no. 1, pp. 244-248. https://doi.org/10.1111/trf.13357
Goldman M, Cemborain A, Cote J, El Hamss R, Flower RL, Garaizar A et al. Identification of six new RHCE variant alleles in individuals of diverse racial origin. Transfusion. 2016 Jan 1;56(1):244-248. https://doi.org/10.1111/trf.13357
Goldman, Mindy ; Cemborain, Arantxa ; Cote, Jacqueline ; El Hamss, Rachid ; Flower, Robert L. ; Garaizar, Adirane ; Garcia-Sanchez, Felix ; Hyland, Catherine A. ; Kalvelage, Monica ; Londero, Donatella ; Lopez, Genghis H. ; Revelli, Nicoletta ; Rodriguez-Wilhelmi, Pablo ; Villa, Maria Antonietta ; Ochoa-Garay, Gorka. / Identification of six new RHCE variant alleles in individuals of diverse racial origin. In: Transfusion. 2016 ; Vol. 56, No. 1. pp. 244-248.
@article{83c983d7d67e465791672b5b1c128760,
title = "Identification of six new RHCE variant alleles in individuals of diverse racial origin",
abstract = "BACKGROUND The introduction of molecular methods into routine blood typing is prompting the identification of new blood group alleles. Discrepancies between the results of genotyping and serology or chance events uncovered during genotyping prompted additional investigations, which revealed six new RHCE variant alleles. STUDY DESIGN AND METHODS Samples from eight blood donors, two patients (one prenatal), and a patient's relative, all of diverse racial origin, were analyzed by standard serology methods, targeted genotyping arrays, DNA sequencing, and allele-specific polymerase chain reaction. RESULTS Six new RHCE alleles were identified, namely, RHCE cE84A, RHCE ce202G, RHCEce307T, RHCE Ce377G, RHCEce697G,712G,733G,744C, and RHCECe733G. CONCLUSION While implementation of new assays in commercial genotyping platforms to detect the polymorphisms reported here may not be justified given their apparent rarity, software interpretative algorithms may benefit from the identification of new alleles for a more accurate determination of genotypes and prediction of phenotypes.",
author = "Mindy Goldman and Arantxa Cemborain and Jacqueline Cote and {El Hamss}, Rachid and Flower, {Robert L.} and Adirane Garaizar and Felix Garcia-Sanchez and Hyland, {Catherine A.} and Monica Kalvelage and Donatella Londero and Lopez, {Genghis H.} and Nicoletta Revelli and Pablo Rodriguez-Wilhelmi and Villa, {Maria Antonietta} and Gorka Ochoa-Garay",
year = "2016",
month = "1",
day = "1",
doi = "10.1111/trf.13357",
language = "English",
volume = "56",
pages = "244--248",
journal = "Transfusion",
issn = "0041-1132",
publisher = "Blackwell Publishing Inc.",
number = "1",

}

TY - JOUR

T1 - Identification of six new RHCE variant alleles in individuals of diverse racial origin

AU - Goldman, Mindy

AU - Cemborain, Arantxa

AU - Cote, Jacqueline

AU - El Hamss, Rachid

AU - Flower, Robert L.

AU - Garaizar, Adirane

AU - Garcia-Sanchez, Felix

AU - Hyland, Catherine A.

AU - Kalvelage, Monica

AU - Londero, Donatella

AU - Lopez, Genghis H.

AU - Revelli, Nicoletta

AU - Rodriguez-Wilhelmi, Pablo

AU - Villa, Maria Antonietta

AU - Ochoa-Garay, Gorka

PY - 2016/1/1

Y1 - 2016/1/1

N2 - BACKGROUND The introduction of molecular methods into routine blood typing is prompting the identification of new blood group alleles. Discrepancies between the results of genotyping and serology or chance events uncovered during genotyping prompted additional investigations, which revealed six new RHCE variant alleles. STUDY DESIGN AND METHODS Samples from eight blood donors, two patients (one prenatal), and a patient's relative, all of diverse racial origin, were analyzed by standard serology methods, targeted genotyping arrays, DNA sequencing, and allele-specific polymerase chain reaction. RESULTS Six new RHCE alleles were identified, namely, RHCE cE84A, RHCE ce202G, RHCEce307T, RHCE Ce377G, RHCEce697G,712G,733G,744C, and RHCECe733G. CONCLUSION While implementation of new assays in commercial genotyping platforms to detect the polymorphisms reported here may not be justified given their apparent rarity, software interpretative algorithms may benefit from the identification of new alleles for a more accurate determination of genotypes and prediction of phenotypes.

AB - BACKGROUND The introduction of molecular methods into routine blood typing is prompting the identification of new blood group alleles. Discrepancies between the results of genotyping and serology or chance events uncovered during genotyping prompted additional investigations, which revealed six new RHCE variant alleles. STUDY DESIGN AND METHODS Samples from eight blood donors, two patients (one prenatal), and a patient's relative, all of diverse racial origin, were analyzed by standard serology methods, targeted genotyping arrays, DNA sequencing, and allele-specific polymerase chain reaction. RESULTS Six new RHCE alleles were identified, namely, RHCE cE84A, RHCE ce202G, RHCEce307T, RHCE Ce377G, RHCEce697G,712G,733G,744C, and RHCECe733G. CONCLUSION While implementation of new assays in commercial genotyping platforms to detect the polymorphisms reported here may not be justified given their apparent rarity, software interpretative algorithms may benefit from the identification of new alleles for a more accurate determination of genotypes and prediction of phenotypes.

UR - http://www.scopus.com/inward/record.url?scp=84954367885&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84954367885&partnerID=8YFLogxK

U2 - 10.1111/trf.13357

DO - 10.1111/trf.13357

M3 - Article

C2 - 26435076

AN - SCOPUS:84954367885

VL - 56

SP - 244

EP - 248

JO - Transfusion

JF - Transfusion

SN - 0041-1132

IS - 1

ER -