Blood group sequencing
Being a company with ample experience in whole-gene, high-resolution sequencing, and typing, we have now established a method for blood group sequencing. With the development of these assays, GenDx wants to contribute to the Blood Group field.
See specificationsBeing a company with ample experience in whole-gene, high-resolution sequencing, and typing, we have now established a method for blood group sequencing. With the development of these assays, GenDx wants to contribute to the Blood Group field.
The term “blood group” refers to the entire blood group system comprising red blood cell (RBC) antigens whose specificity is controlled by a series of genes that can be allelic or linked very closely on the same chromosome. Currently, there are 43 blood group systems described by the ISBT (International Society of Blood Transfusion). Their typing is almost exclusively based on serology or SNP assays. Sequencing of blood groups, especially whole-gene, is rare and there is currently no comprehensive database with systematic nomenclature to keep track of all variants. With the method we established, data can be generated and novel sequences can be contributed to a curated database, and become accessible to the scientific community.
We designed primers for whole gene amplification of 11 blood group systems; Kell (KEL), Lewis (LE), Duffy (FY), Diego (DI), Landsteiner-Wiener (LW), H (H), Vel (VEL), Gerbich (GE), Colton (CO), GIL (GIL) and Langereis (LAN). For the sequencing, we used PacBio Sequel IIe. Amplicon length ranged from 2 to 22 kb, where a 2 amplicon strategy covered the entire 42kb GE gene.
With PacBio HiFi sequencing, high-quality data was obtained, with low noise and full phasing of the amplicons. By sequencing a 96 sample panel, we have identified a large number of both coding and non-coding variants of KEL, LE, FY, DI, LW, H, VEL, GE, and CO (Table 1).
Similarly, GIL and LAN sequencing of a 58 sample panel identified a large number of alleles not previously described by the ISBT (Table 2).
Table 1. New alleles (based on alleles described by ISBT, Oct 2021) identified in 96 sample panel.
Table 2. Number of new alleles (based on alleles described by ISBT, Oct 2021) of blood groups LAN and GIL, identified in 58 sample panel
A proper understanding of the blood group system, their clinical significance, typing and cross-matching tests, and current perspective are very important to prevent transfusion-related complications. Nonetheless, the knowledge on the blood group system is necessary to approach blood group-linked diseases which are still at the stage of research. Additional sample testing is also needed to indicate the scale of genetic variability.
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