Literature DB >> 25960716

Molecular Basis of KELnull Phenotype in Brazilians.

Edmir Boturão-Neto1, Mihoko Yamamoto1, Akemi Kuroda Chiba1, Elisa Yuriko Sugano Kimura1, Maria do Carmo Valgueiro Costa de Oliveira2, Cláudia Lumack do Monte Barretto2, Mércia Maria Alves Nunes2, Sérgio Roberto Lopes Albuquerque3, Marcos Daniel de Deus Santos4, José Orlando Bordin1.   

Abstract

BACKGROUND: KELnull (K0) persons can produce clinically significant anti-KEL5 antibody after transfusion and/or pregnancy, requiring K0 blood transfusion when indicated. 37 K0 alleles have been reported in studies over different populations, but none in Amerindian-Caucasian descendants from South America. The aim of this study was to identify the molecular basis of K0 phenotype in Brazilians.
METHODS: We investigated three K0 samples from different Brazilian blood banks (Recife, Manaus, and Vila Velha) in women with anti-KEL5. KEL antigen typing was performed by serologic techniques, and the K0 status was confirmed by flow cytometry. PCR-RFLP and DNA sequencing of the KEL coding and exon-intron regions were also performed.
RESULTS: RBCs of the 3 patients were phenotyped as KEL:-1,-2,-3,-4,-7. The 3 patients had the same KEL*02/02 genotype and were negative for KEL*02.03 and KEL*02.06 alleles. The Recife K0 patient was homozygous for IVS16 + 1g>a mutation (KEL*02N.31 allele). The flow cytometry with anti-KEL1, anti-KEL2, anti-KEL3, anti-KEL4, and anti-CD238 confirmed the K0 phenotype. In addition, we found the c.10423C>T mutation (KEL*02N.04 allele) in both the Manaus K0 and the Vila Velha K0 patients.
CONCLUSION: This report represents the first study of K0 molecular basis performed in Amerindian-Caucasian descendants from South America.

Entities:  

Keywords:  KELnull alleles; KELnull phenotype; Kell blood group system

Year:  2014        PMID: 25960716      PMCID: PMC4404904          DOI: 10.1159/000370232

Source DB:  PubMed          Journal:  Transfus Med Hemother        ISSN: 1660-3796            Impact factor:   3.747


  33 in total

Review 1.  Functional and structural aspects of the Kell blood group system.

Authors:  S Lee; D Russo; C Redman
Journal:  Transfus Med Rev       Date:  2000-04

2.  Molecular defects underlying the Kell null phenotype.

Authors:  S Lee; D C Russo; A P Reiner; J H Lee; M Y Sy; M J Telen; W J Judd; P Simon; M J Rodrigues; T Chabert; J Poole; S Jovanovic-Srzentic; C Levene; V Yahalom; C M Redman
Journal:  J Biol Chem       Date:  2001-05-24       Impact factor: 5.157

3.  Fatal hemolytic transfusion reaction due to anti-Ku in a Knull patient.

Authors:  M Lin; C L Wang; F S Chen; L H Ho
Journal:  Immunohematology       Date:  2003

4.  Genetic diversity of KELnull and KELel: a nationwide Austrian survey.

Authors:  Günther F Körmöczi; Thomas Wagner; Christof Jungbauer; Maria Vadon; Norbert Ahrens; Willi Moll; Annelies Mühlbacher; Seyhan Ozgül-Gülce; Thomas Kleinrath; Susanne Kilga-Nogler; Diether Schönitzer; Christoph Gassner
Journal:  Transfusion       Date:  2007-04       Impact factor: 3.157

Review 5.  The value of DNA analysis for antigens of the Kell and Kx blood group systems.

Authors:  Soohee Lee
Journal:  Transfusion       Date:  2007-07       Impact factor: 3.157

6.  Two novel null alleles of the KEL gene detected in two Chinese women with the K(null) phenotype.

Authors:  Ying Yang; LingLing Wang; Chen Wang; HePing Chen; ZhongHui Guo; YuXian Zhang; ZiYan Zhu
Journal:  Transfus Med       Date:  2009-10       Impact factor: 2.019

7.  Two McLeod patients with novel mutations in XK.

Authors:  Patrycja M Dubielecka; Nelson Hwynn; Cenk Sengun; Soohee Lee; Christine Lomas-Francis; Carlos Singer; Hubert H Fernandez; Ruth H Walker
Journal:  J Neurol Sci       Date:  2011-04-03       Impact factor: 3.181

8.  Insights into extensive deletions around the XK locus associated with McLeod phenotype and characterization of two novel cases.

Authors:  Jianbin Peng; Colvin M Redman; Xu Wu; Xiaoling Song; Ruth H Walker; Connie M Westhoff; Soohee Lee
Journal:  Gene       Date:  2007-01-11       Impact factor: 3.688

9.  Molecular basis of two novel and related high-prevalence antigens in the Kell blood group system, KUCI and KANT, and their serologic and spatial association with K11 and KETI.

Authors:  Randall W Velliquette; Kim Hue-Roye; Christine Lomas-Francis; Barbara Gillen; Jennifer Schierts; Kristie Gentzkow; Thierry Peyrard; Inge von Zabern; Willy A Flegel; Karen Rodberg; Asim K Debnath; Soohee Lee; Marion E Reid
Journal:  Transfusion       Date:  2013-04-08       Impact factor: 3.157

Review 10.  Defective splicing, disease and therapy: searching for master checkpoints in exon definition.

Authors:  Emanuele Buratti; Marco Baralle; Francisco E Baralle
Journal:  Nucleic Acids Res       Date:  2006-07-19       Impact factor: 16.971

View more
  2 in total

1.  Clinical Significance of an Alloantibody against the Kell Blood Group Glycoprotein.

Authors:  Stella Maris Mattaloni; Carine Arnoni; Rosario Céspedes; Claudia Nonaka; Carolina Trucco Boggione; Melina Eliana Luján Brajovich; Andrea Trejo; Néstor Zani; Claudia Silvia Biondi; Lilian Castilho; Carlos Miquel Cotorruelo
Journal:  Transfus Med Hemother       Date:  2016-11-02       Impact factor: 3.747

2.  Low-Frequency Blood Group Antigens in Switzerland.

Authors:  Christoph Gassner; Frauke Degenhardt; Stefan Meyer; Caren Vollmert; Nadine Trost; Kathrin Neuenschwander; Yvonne Merki; Claudia Portmann; Sonja Sigurdardottir; Antigoni Zorbas; Charlotte Engström; Jochen Gottschalk; Soraya Amar El Dusouqui; Sophie Waldvogel-Abramovski; Emmanuel Rigal; Jean-Daniel Tissot; Caroline Tinguely; Simon M Mauvais; Amira Sarraj; Daniel Bessero; Michele Stalder; Laura Infanti; Andreas Buser; Jörg Sigle; Tina Weingand; Damiano Castelli; Monica C Braisch; Jutta Thierbach; Sonja Heer; Thomas Schulzki; Michael Krawczak; Andre Franke; Beat M Frey
Journal:  Transfus Med Hemother       Date:  2018-07-10       Impact factor: 3.747

  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.