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Figure
1.
Haplotype-phenotype relation for T Cell activation. Three peoples’ HLA diploid haplotypes are shown. At the left of each is the DQ haplotype of maternal and paternal chromosome 6, showing alleles for A1 and B1 genes (as shown, these genes are adjacent to each other on the chromosome). A dendritic cell (square outline), expresses the protein pairs possible for each person (black and open rectangles match black and open portions of chromosome 6 at left). At the right of each is the predicted number of T cell activation units likely for each person, based on the idea that A1*05 B1*02 presents epitope strongly and activates T cells. Panel A: A1*05 B1*02 homozygote: all four heterodimers bind and present epitope and have score of 1. Panel B: A1*02 B1*02 presents with half the strength of A1*05 B1*02; the A1*05 B1*03 does not present epitope but allows the trans formation of protein pair. Panel C: A1*01*B1*05 or A1*01 B1*06 do not present epitope at all and have score of 0. Thus, the DQ2.5/DQ2.5 homozygote (A) is predicted to be the strongest CD genotype, the DQ5/DQ6 genotype (C) is not predicted to be a CD genotype, and the DQ2.2/DQ7.5 (B) is predicted to be intermediate
From
Relationship Between Genotype and Disease Phenotype for Gluten-Related Disorders
Michael F. Roberts, Nadine Grzeskowiak, Stephen E. Bricher
International Journal of Celiac Disease
.
2024
, 12(1), 33-40 doi:10.12691/ijcd-12-1-7
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