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Determination of CD177 (human neutrophil antigen 2) polymorphisms using nanopore sequencing
Kirstine Kløve-Mogensen1, Thure Mors Haunstrup1,2,3, Anne-Louise Fjordside Bilde1
1Department of Clinical Immunology, Aalborg University Hospital, Aalborg, Denmark.
Vox Sanguinis
|March 25, 2025
Summary
Long-read nanopore sequencing offers a reliable molecular testing method for CD177, simplifying the investigation of Human Neutrophil Antigen 2 (HNA-2) expression. This approach aids in understanding CD177 null cases and atypical expression patterns.
Area of Science:
- Immunogenetics
- Molecular Diagnostics
Background:
- Human Neutrophil Antigen 2 (HNA-2), encoded by CD177, is crucial in medicine.
- Current molecular testing for CD177 expression is complex and not standardized.
- Variable CD177 expression necessitates improved diagnostic methods.
Purpose of the Study:
- To evaluate long-read nanopore sequencing for molecular testing of CD177.
- To establish a more efficient method for investigating CD177 expression variations.
Main Methods:
- DNA from 44 Danish blood donors with varying CD177 expression levels was analyzed.
- Targeted sequencing of CD177 exons using long-read nanopore technology.
Main Results:
- CD177 null cases were linked to the c.787A>T;p.K263X variant.
- Heterozygosity for c.787A>T correlated with reduced CD177 expression.
- The c.1291G>A;p.G431R variant was associated with atypical CD177 expression.
- Nanopore sequencing identified 14 variants across 7 CD177 exons.
Conclusions:
- Long-read nanopore sequencing is a dependable tool for routine CD177 molecular testing.
- This method simplifies the investigation of CD177 null and atypical expression.
- Facilitates improved diagnostics for conditions related to CD177 expression.
