Abstract
The current version of the Common Well-Documented (CWD) catalogue version 2.0 (Mack et. al., 2013) lists HLA-DPB1 ∗ 104:01 as a well-documented (WD) allele with unknown frequency and thus may be rare. DPB1 ∗ 104:01 and DPB1 ∗ 03:01 share the exact same sequence at exons 1, 2, and 3 but can be distinguished by a G > A polymorphism within exon 4. In this study we demonstrate that the frequency of DPB1 ∗ 104:01 is underestimated in the general population: ten DPB1 ∗ 03:01G typed samples from the UCLA International DNA exchange program were re-analyzed using a specific LinkSēq Real-Time PCR test. Eight of these samples were positively identified as DPB1 ∗ 104:01 and verified using Sequence Based Typing (SBT) analysis. The study was then extended to 861 unrelated individuals typed by three ASHI-accredited laboratories distributed across the United States. The overall frequency of DPB1 ∗ 104:01 in this data set was observed to be 0.02. An unexpected distribution of ethnic signatures was observed in which the frequency of DPB1 ∗ 104:01 was highest among Hispanics (0.046), followed by African Americans (0.03) as compared to Caucasians (0.012). Our findings suggest that future HLA typing outside of the classical exons for both class I and class II alleles may redefine the frequency of certain allele types that were previously unconfirmed or underestimated.
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