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Article . 2014 . Peer-reviewed
License: Wiley Online Library User Agreement
Data sources: Crossref
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Article . 2014
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Two novel KEL alleles encoding K0 phenotypes in Brazilians

Authors: Rosangela de Medeiros Person; Carine Prisco Arnoni; Janaína Guilhem Muniz; Frederico Brandão; Flavia Roche Moreira Latini; Diana Gazito; Lilian Castilho; +2 Authors

Two novel KEL alleles encoding K0 phenotypes in Brazilians

Abstract

K0 (null) is a rare phenotype in which no Kell antigens are expressed on the red blood cell (RBC) membrane. Anti-Ku seen in K0 individuals has previously been shown to cause hemolytic disease of newborn and severe hemolytic transfusion reactions. Several molecular mechanisms associated with the K0 phenotype have already been described, including those that lead to alternative RNA splicing, premature stop codons, and amino acid changes that affect protein trafficking. We herein report two novel KEL alleles encoding K0 phenotypes in Brazilians. We analyzed genomic DNA of two unrelated Caucasian females referred to our reference laboratory. Both patients were phenotyped as K−, k−, Kp(a−), Kp(b−), Js(a−), Js(b−) and presented an antibody reactive 2+ in gel indirect antiglobulin test with all RBCs except their own.

Keywords

Membrane Glycoproteins, Genotype, Kell Blood-Group System, Molecular Sequence Data, Metalloendopeptidases, Exons, Sequence Analysis, DNA, White People, Alternative Splicing, Phenotype, Codon, Nonsense, Humans, Point Mutation, Female, Brazil

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Powered by OpenAIRE graph
citations
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
3
Average
Average
Average