SMIM1 at a glance; discovery, genetic basis, recent progress and perspectives
- PMID: 30906890
- PMCID: PMC6416411
- DOI: 10.1016/j.parepi.2019.e00101
SMIM1 at a glance; discovery, genetic basis, recent progress and perspectives
Erratum in
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Erratum regarding missing Declaration of Competing Interest statements in previously published articles.Parasite Epidemiol Control. 2020 Dec 15;11:e00194. doi: 10.1016/j.parepi.2020.e00194. eCollection 2020 Nov. Parasite Epidemiol Control. 2020. PMID: 33426316 Free PMC article.
Abstract
Recent elucidation of the genetic basis of the Vel blood group system has offered the field of blood transfusion medicine an additional consideration in determining the causes of hemolytic reactions after a patient is transfused. The identification of the SMIM1 gene to be responsible for the Vel blood group allows molecular based tools to be developed to further dissect the function of this antigen. Genetic signatures such as the homozygous 17 bp deletion and the heterozygous 17 bp deletion in combination with other single nucleotide polymorphisms (SNPs) and insertion sequences regulate the expression level of the gene. With this knowledge, it is now possible to study this antigen in-depth.
Keywords: Blood; Frameshift; Heterozygous; Nucleotides; Vel.
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