Three missense mutations found in the KEL gene lead to K_mod or K₀ red blood cell phenotypes

Abstract

Molecular investigation is an important complement to routine serologic analyses of Kell antigens. Discrepancies between genotype and phenotype may reveal the presence of K(mod) or K0 phenotypes. Our description of three new KEL alleles suggests a role for a wider diagnostic approach to typing of the Kell system.

Immune Cytolytic Activity Is Associated With Genetic and Clinical Properties of Glioma

“…Upregulated RTK-RAS-PI3K and ERK pathways will promote tumor progression and chemoresistance (29). The mutation of KEL (30), TTN (31), and SPTA1 (32) resulted in a variety of hereditary red blood cell and neutrophils disorder which could induced an abnormal immune response in human body. Mutations in SWI/SNF and chromatin-remodeling complex (SMARCA4, COL6A3, RYR2, and SPEG) contributed to cancer and neurological disorders (33).…”

New KEL*01M and KEL*02M alleles: structural modeling to assess the impact of amino acid changes

“…The estimated cumulative KEL*02N and KEL*02M allele frequencies among the general population in Austria is 0.1%, but higher frequency of KEL*02N has been reported in France based on investigation of 121 unrelated individuals referred to the CNRGS for confirmation of their KEL:–2 (k–) phenotype . Genotyping has contributed to elucidating the antigen status in individuals with uncommon polymorphisms in the KEL gene . In this report we described six novel Kmod alleles, four of which we found on a KEL*01 background, representing a significant addition to the known KEL*01M repertoire since only two KEL*01M alleles were previously described …”

“…Today, no data are available concerning anti‐KEL2 immunization in patients with Kmod phenotype or that are able to determine whether the few KEL molecules expressed by Kmod blood donors are able to induce alloimmunization in a recipient. However, serologic KEL2‐negative results should always be confirmed by means of genotyping analysis to avoid transfusion of Kmod RBCs units into KEL:1,‐2 recipients as previously suggested . Our data describing four new KEL*01M alleles suggest a nonnegligible incidence of KEL1 variants.…”

Silent KEL alleles identified from Japanese individuals with the Ko phenotype

“…The Kell glycoprotein is encoded by the KEL gene, which consists of 19 exons spanning over 20 kb . The KEL gene is very polymorphic, and more than 40 different KEL silencing alleles with nonsense mutations, missense mutations or splice site mutations have been reported . The majority of these silent KEL alleles have the KEL*02 background, and in the Japanese population, a woman with anti‐Ku and a compound heterozygote for KEL*02N.08 and KEL*02N.09 has been reported .…”