-
- TRL (Technology readiness level) -
-
- Titre A SIMPLE MOLECULAR ASSAY FOR RHD GENOTYPING
- Description Rhesus (Rh) status is routinely determined by serological analyses, but molecular analysis of the RHD gene for phenotype prediction is required when discrepancy and/or ambiguity occurs. EFS has identified a novel predominant RHD allele resulting in the weak D phenotype in the Indian population. A new RHD genotyping method based on the detection of this novel allele is proposed.
APPLICATIONS:
• Identification of the most prevalent weak D variant allele in the Indian population
• Identification of RHD copy number variation /RHD-RHCE gene rearrangement
• Clinical management of transfusion
• Pregnancies at risk
- Bénéfices • Rapid test: Processing time is around 2 hours after genomic DNA extraction. Only one amplification step is necessary per test.
• Simple protocol: PCR mix ready to use, minimal material is required to carry out
the test.
• Low cost genotyping test: cost <1 euro (reagent/test).
- Nouveauté This invention is a method for detecting the presence of a novel Indian-specific RHD variant allele, including duplication of a 12-kilobase region embedding RHD exon 3, in a DNA sample. This specific allele is the main genetic cause resulting in
a weak D phenotype in the Indian population. The proof-of-concept was achieved in 223 human genomic DNA samples of Indian origin.
- Mots clés RHD gene, RHD genotype, weak D phenotype, Indian population, wild-type, D-, D+, genotyping, D antigen, primers, rapid, simple, low-cost, Rh D‐positive, Rh D‐negative, multiplex PCR
- Secteurs Health
