| Popis: |
A 42 year old African American female with a history of hypertensive nephrosclerosis secondary to diabetes mullitus type I and previous kidney/pancreas transplant was seen at our institution for relisting due to graft failure. Initial HLA typing (One Lambda LabType SSO) demonstrated a Class II typing of HLA-DRB1 ∗ 07, 11; DRB4 ∗ 01; DQB1 ∗ 02, 03. Of note was the lack of the typical associated DRB3 ∗ gene. The patient’s HLA typing was concordant with the previous HLA typing obtained from the original transplant (including the apparent lack of the DRB3 gene). Next Generation Sequencing was performed (Illumina TruSight HLA) with concordant results at low resolution. The high resolution class II result (HLA-DRB1 ∗ 07:01, 11:xx; DRB4 ∗ 01:01; DQB1 ∗ 02:02, 03:01) confirmed the absence of the DRB3 gene and additionally documented a novel DRB1 ∗ 11:04 variant. A single nucleotide polymorphism (SNP) was detected in exon 4 at base pair 12226 resulting in a change of amino acid from Glutamic acid to Valine. Since this SNP is in exon 4 which is not part of the antigen binding domain, it is considered a variant of the DRB1 ∗ 11:04 allele. This is, to our knowledge, the first description of an HLA-DRB3 negative HLA-DR ∗ 11 haplotype with a new DRB1 ∗ 11 allele. |
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