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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

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Two new RHD alleles with deletions spanning multiple exons.

Antonella Matteocci¹, Jorge Monge-Ruiz^2,3, Marianne Stef⁴

¹Transfusion Medicine Unit, San Camillo Forlanini Hospital, Rome, Italy.

|November 26, 2020

Summary

Two RhD-negative individuals with inconclusive RHD genotyping results were found to have large deletions of RHD exons. These novel RHD alleles were characterized by PCR and sequencing, revealing breakpoints within the 5' Rhesus box.

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Area of Science:

Genetics
Molecular Biology
Immunology

Background:

The RHD gene determines the D antigen in RhD-positive individuals.
Large deletions in the RHD gene are a known cause of RhD-negative status.
Previously identified large-deletion RHD alleles include RHD*01N.01 (entire coding sequence deleted) and RHD*01N.67 (exon 1 deletion).

Purpose of the Study:

To determine the RHD genotypes of two donors with RhD-negative serology who had inconclusive results from RHD genotyping arrays.
To characterize novel large-deletion RHD alleles.

Main Methods:

Genomic DNA analysis using allele-specific PCR, long-range PCR, Sanger sequencing, and next-generation sequencing.
Quantitative next-generation sequencing to confirm exon deletions.
Identification of deletion breakpoints.

Main Results:

One sample showed deletion of RHD exons 1-3, and the other showed deletion of exons 1-5.
Next-generation sequencing confirmed these deletions and the absence of an RHD gene in trans.
Long-range PCR and Sanger sequencing identified deletion breakpoints within the 5' Rhesus box and introns.

Conclusions:

Unclear genotyping results can lead to the discovery of new RHD alleles.
The 5' Rhesus box may be a recombination hotspot for large RHD deletions.
Characterization of these novel alleles improves RHD genotyping accuracy.