Abstract
The human tryptase locus is a gene-dense region within the subtelomeric portion of the short (p) arm of chromosome 16 at position 13.3 (16p13.3). 1 Glover SC Carter MC Korošec P et al. Clinical relevance of inherited genetic differences in human tryptases: hereditary alpha-tryptasemia and beyond. Ann Allergy Asthma Immunol. 2021; 127: 638-647 Abstract Full Text Full Text PDF Scopus (2) Google Scholar Because the 2 genes that encode secreted a- and b-tryptases TPSAB1 and TPSB2 are in such close proximity to one another, they do not randomly assort and are in near-complete linkage disequilibrium. Moreover, individuals inherit tryptase genes as haplotypes from their parents that contain both of these genes. Whereas TPSB2 encodes b-tryptases, TPSAB1 may encode a- or b-tryptases. Thus, the canonical TPSAB1/TPSB2 haplotypes are a/b or b/b, leading to the canonical tryptase genotypes of b/b:b/b, a/b:b/b, or a/b:a/b. 1 Glover SC Carter MC Korošec P et al. Clinical relevance of inherited genetic differences in human tryptases: hereditary alpha-tryptasemia and beyond. Ann Allergy Asthma Immunol. 2021; 127: 638-647 Abstract Full Text Full Text PDF Scopus (2) Google Scholar Structural homology among tryptase-encoding genes and other features of the tryptase locus (eg, GC-rich, repetitive sequences) render conventional next-generation sequencing incapable of resolving tryptase genotypes. However, a droplet digital polymerase chain reaction assay is available for clinical genotyping of patients. 2 Lyons JJ. Hereditary alpha Tryptasemia: genotyping and associated clinical features. Immunol Allergy Clin North Am. 2018; 38: 483-495 Abstract Full Text Full Text PDF PubMed Scopus (70) Google Scholar
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