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Rare HLA DRB1*10-DQB1*06 Linkage Disequilibrium: A Case Study That Emphasizes the Need of Having an HLA Toolbox

S. Dionne, L. Santiago, S. Shetty

VRL-Eurofins, Centennial, CO

Meeting: 2020 American Transplant Congress

Abstract number: A-281

Keywords: Allocation, HLA antigens

Session Information

Session Name: Poster Session A: Histocompatibility and Immunogenetics

Session Type: Poster Session

Date: Saturday, May 30, 2020

Session Time: 3:15pm-4:00pm

 Presentation Time: 3:30pm-4:00pm

Location: Virtual

*Purpose: This case study highlights the need to use different tools to derive and validate HLA typing results especially in instances of rare typing.

*Methods: Low/intermediate resolution typing was performed using DNA extracted from blood drawn into ACD tubes. DNA concentration and purity were assessed. The HLA typing was performed using RT-PCR (LinkSeq), RSSO (One Lambda) and NGS (Illumina).

*Results: Our laboratory performs deceased donor HLA typing for OPOs. We received a specimen for STAT typing from a 55-year-old Caucasian male for organ transplantation. The Class I typing was common: HLA-A*01, *02; HLA-B*13, *27; HLA-C*05, *06. Class II typing wasn’t as common; in particular the linkage disequilibrium between DRB1-DQB1. Typing obtained was DRB1*10-DQB1*06; a haplocheck warning was issued by the software. This is a rare association; the most common association in all populations is DRB1*10-DQB1*05. The testing was repeated with a different lot and the same results were obtained. In conjunction with typing the following tools were used: HaploStat, Allele Frequency Net, DRB1-DQB1 Association tables, NMDP High Resolution HLA Alleles and Haplotype Frequency. All the association tables had the most common association disequilibrium of DRB1*10-DQB1*05. The Allele Frequency Net Database and HaploStat websites were the most useful tools. The HaploStat search gave two possible haplotypes: (i) Caucasian A*01/B*13/C*06/DRB1*10/DQB1*06 with a frequency of 9.083E-8 and (ii) Native American A*02/B*13/C*06/DRB1*10/DQB1*06 with a frequency of 1.896E-7. In the Allele Frequency Net database, we observed 11 hits for DRB1*10-DQB1*06. This association has been observed in Caucasians at a low frequency. The haplotype observed as it relates to the donor was; A*02 B*13 C*06 DRB1*10 DQB1*06 haplotype with a frequency of 0.0021%. Organs were allocated in DonorNet® as DRB1*10-DQB1*06. The donor was retrospectively typed by RSSO and NGS which yielded the same results as RT-PCR.

*Conclusions: This case demonstrates the usefulness of the HLA data tools in rare linkage disequilibrium results to aid in the confidence of accurate STAT test results.

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To cite this abstract in AMA style:

Dionne S, Santiago L, Shetty S. Rare HLA DRB1*10-DQB1*06 Linkage Disequilibrium: A Case Study That Emphasizes the Need of Having an HLA Toolbox [abstract]. Am J Transplant. 2020; 20 (suppl 3). https://atcmeetingabstracts.com/abstract/rare-hla-drb110-dqb106-linkage-disequilibrium-a-case-study-that-emphasizes-the-need-of-having-an-hla-toolbox/. Accessed May 11, 2025.

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