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 language | English |
|---|---|
| Pages (from-to) | 244-248 |
| Number of pages | 5 |
| Journal | Transfusion |
| Volume | 56 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - Jan 1 2016 |
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ASJC Scopus subject areas
- Hematology
- Immunology
- Immunology and Allergy
Cite this
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 journal › Article
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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 -